401 (71.6%)
|
Bannayan-Riley-Ruvalcaba syndrome
|
Broad thumb
Long philtrum
Micrognathia
Narrow palate
Autosomal dominant inheritance
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
Orphanet:109
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GTR:C0265326
|
402 (71.6%)
|
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
|
Brachydactyly
Cleft palate
Glossoptosis
Micrognathia
Short femur
Orphanet:440354
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|
403 (71.5%)
|
Lymphedema-distichiasis syndrome
|
Cleft upper lip
Ectropion
Micrognathia
Autosomal dominant inheritance
Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.
Orphanet:33001
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KEGG:H02167
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GTR:C0265345
|
403 (71.5%)
|
Emanuel syndrome
|
Micrognathia
Submucous cleft lip
Upslanted palpebral fissure
Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
Orphanet:96170
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KEGG:H01790
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GTR:C1836929
|
405 (71.4%)
|
Monosomy 5p
|
Epicanthus
High palate
Microretrognathia
Small hand
Sporadic
Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.
Orphanet:281
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KEGG:H00764
GTR:C0010314
GTR:C2931860
|
405 (71.4%)
|
Hallermann-Streiff syndrome
|
Abnormality of the tongue
Micrognathia
Small hand
Telecanthus
Sporadic
Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
Orphanet:2108
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GTR:C0018522
|
405 (71.4%)
|
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
|
Epicanthus
High palate
Micrognathia
Small hand
Autosomal dominant inheritance
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.
Orphanet:300570
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KEGG:H01881
|
408 (71.4%)
|
Atelosteogenesis type III
|
Hand clenching
High palate
Micrognathia
Short tubular bones of the hand
Autosomal dominant inheritance
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Orphanet:56305
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GTR:C3668942
|
409 (71.4%)
|
Velo-facial-skeletal syndrome
|
Abnormality of the dentition
Epicanthus
Large hands
Short palm
Autosomal dominant inheritance
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.
Orphanet:3424
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GTR:C1833380
|
409 (71.4%)
|
Autosomal recessive spastic paraplegia type 20
|
Abnormal hand morphology
Epicanthus
Overbite
Small hand
Autosomal recessive inheritance
Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.
Orphanet:101000
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GTR:C0393559
|
411 (71.4%)
|
Eiken syndrome
|
Absence of the sacrum
Broad palm
Fibular hypoplasia
Short palm
Autosomal recessive inheritance
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.
Orphanet:79106
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KEGG:H00495
GTR:C1838779
|
412 (71.3%)
|
49,XYYYY syndrome
|
Coarse facial features
Micrognathia
Radioulnar synostosis
Short 5th finger
49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.
Orphanet:99330
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|
413 (71.3%)
|
Recombinant 8 syndrome
|
Abnormality of the dentition
Cleft upper lip
Micrognathia
Patellar aplasia
Autosomal dominant inheritance
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
Orphanet:96167
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GTR:C0795822
|
414 (71.3%)
|
Imperforate oropharynx-costovertebral anomalies syndrome
|
Abnormality of the philtrum
Arachnodactyly
Epicanthus
Missing ribs
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
Orphanet:2759
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|
415 (71.2%)
|
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
|
Short distal phalanx of finger
Telecanthus
Autosomal dominant inheritance
Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.
Orphanet:1547
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GTR:C1852454
|
415 (71.2%)
|
Dahlberg-Borer-Newcomer syndrome
|
Short distal phalanx of finger
Telecanthus
Wide nasal bridge
Autosomal recessive inheritance
X-linked recessive inheritance
Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.
Orphanet:1563
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GTR:C1855477
|
417 (71.2%)
|
Branchiogenic deafness syndrome
|
Cleft palate
Short distal phalanx of finger
Autosomal dominant inheritance
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.
Orphanet:50815
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GTR:C1836673
|
417 (71.2%)
|
Early infantile epileptic encephalopathy
|
Cleft palate
Short finger
A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.
Orphanet:1934
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GTR:C0393706
|
419 (71.2%)
|
Nasopalpebral lipoma-coloboma syndrome
|
Broad forehead
Clinodactyly of the 5th finger
Eyelid coloboma
Hypoplasia of the maxilla
Autosomal dominant inheritance
Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.
Orphanet:2399
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GTR:C1868660
|
420 (71.2%)
|
Verloove Vanhorick-Brubakk syndrome
|
Cleft palate
Limb undergrowth
Micrognathia
Non-midline cleft lip
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.
Orphanet:3429
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GTR:C1859082
|
421 (71.1%)
|
Ulna hypoplasia-intellectual disability syndrome
|
Hypoplasia of the radius
Hypoplasia of the ulna
Large fontanelles
Micromelia
Autosomal recessive inheritance
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
Orphanet:2249
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GTR:C1848650
GTR:C2931370
|
422 (71.1%)
|
Pelviscapular dysplasia
|
Blepharophimosis
Brachydactyly
Hypoplastic scapulae
Short femur
Autosomal recessive inheritance
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.
Orphanet:93333
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KEGG:H00873
GTR:C1850040
|
423 (71.0%)
|
Hutchinson-Gilford progeria syndrome
|
Absent eyelashes
Metaphyseal widening
Micrognathia
Tapering pointed ends of distal finger phalanges
Thin vermilion border
Autosomal dominant inheritance
Autosomal recessive inheritance
Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
Orphanet:740
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KEGG:H00601
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GTR:C0033300
|
424 (71.0%)
|
Marshall syndrome
|
Genu valgum
Micrognathia
Sparse eyelashes
Thick upper lip vermilion
Autosomal dominant inheritance
A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
Orphanet:560
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KEGG:H02081
GTR:C0265235
|
424 (71.0%)
|
GAPO syndrome
|
Abnormality of the metaphysis
Long philtrum
Micrognathia
Sparse eyelashes
Autosomal recessive inheritance
A multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations.
Orphanet:2067
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GTR:C0406723
|
424 (71.0%)
|
Oculocerebrorenal syndrome of Lowe
|
Abnormality of the metaphysis
Micrognathia
Thin upper lip vermilion
Upslanted palpebral fissure
X-linked recessive inheritance
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
Orphanet:534
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KEGG:H00692
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GTR:C0028860
|
427 (71.0%)
|
McDonough syndrome
|
Bilateral single transverse palmar creases
Micrognathia
Short palpebral fissure
Short philtrum
Autosomal recessive inheritance
McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.
Orphanet:2471
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GTR:C0796038
|
427 (71.0%)
|
Perlman syndrome
|
Abnormality of upper lip
Bilateral single transverse palmar creases
Epicanthus
Micrognathia
Autosomal recessive inheritance
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
Orphanet:2849
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KEGG:H01412
Gene Reviews
GTR:C0796113
|
429 (71.0%)
|
Langerhans cell histiocytosis
|
Absent radius
Oral ulcer
Xanthelasma
Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues.
Orphanet:389
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GTR:C0019621
|
430 (70.9%)
|
Rhizomelic dysplasia, Patterson-Lowry type
|
Epicanthus
Mandibular prognathia
Short humerus
Short metacarpal
Autosomal recessive inheritance
Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.
Orphanet:2831
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GTR:C1832359
|
431 (70.9%)
|
Leprechaunism
|
Large hands
Micrognathia
Thick lower lip vermilion
Autosomal recessive inheritance
Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.
Orphanet:508
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KEGG:H00719
Gene Reviews
GTR:C0265344
|
432 (70.9%)
|
Sotos syndrome
|
Downslanted palpebral fissures
Genu valgum
High palate
Large hands
Micrognathia
Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
Orphanet:821
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GTR:C0175695
|
433 (70.9%)
|
Stickler syndrome type 3
|
Abnormal metacarpal morphology
Glossoptosis
Long philtrum
Micrognathia
Autosomal dominant inheritance
Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
Orphanet:166100
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KEGG:H02079
Gene Reviews
GTR:C1861481
|
434 (70.9%)
|
Weissenbacher- Zweymuller syndrome
|
Cleft palate
Glossoptosis
Micrognathia
Short femur
Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.
Orphanet:3450
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GTR:C1848488
|
434 (70.9%)
|
Diabetic embryopathy
|
Cleft palate
Micrognathia
Short femur
A rare disorder characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother.
Orphanet:1926
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|
434 (70.9%)
|
Campomelic dysplasia
|
Cleft palate
Fibular hypoplasia
Micrognathia
Short long bone
Autosomal dominant inheritance
Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).
Orphanet:140
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KEGG:H00442
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GTR:C1861922
|
437 (70.9%)
|
Spondyloepimetaphyseal dysplasia with joint laxity
|
Cleft palate
Long philtrum
Micromelia
Short foot
Short palm
Orphanet:93359
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GTR:C0432243
|
438 (70.8%)
|
Acrocephalopolydactyly
|
Abnormality of the mouth
Brachydactyly
Epicanthus
Limb undergrowth
Short long bone
Autosomal recessive inheritance
An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.
Orphanet:221054
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GTR:C1860157
GTR:C3495588
|
439 (70.8%)
|
Cleidorhizomelic syndrome
|
Abnormal clavicle morphology
Rhizomelia
Short middle phalanx of the 5th finger
Autosomal dominant inheritance
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.
Orphanet:1453
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GTR:C1861515
|
440 (70.8%)
|
Feingold syndrome
|
Brachydactyly
Micrognathia
Oral cleft
Short palpebral fissure
Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2) (see these terms). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures.
Orphanet:1305
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GTR:C0796068
|
440 (70.8%)
|
3C syndrome
|
Brachydactyly
Cleft palate
Downslanted palpebral fissures
Micrognathia
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).
Orphanet:7
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GTR:C0796137
|
442 (70.8%)
|
Monosomy 13q14
|
Aplasia/Hypoplasia of the thumb
Epicanthus
Micrognathia
Autosomal dominant inheritance
Sporadic
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.
Orphanet:1587
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|
443 (70.8%)
|
Borjeson-Forssman-Lehmann syndrome
|
Blepharophimosis
Oral cleft
Short toe
X-linked recessive inheritance
Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.
Orphanet:127
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KEGG:H01915
GTR:C0265339
|
444 (70.8%)
|
Arthrogryposis multiplex congenita-whistling face syndrome
|
Adducted thumb
Blepharophimosis
Micrognathia
Thin vermilion border
Autosomal recessive inheritance
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
Orphanet:1150
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GTR:C1859711
|
444 (70.8%)
|
German syndrome
|
Camptodactyly of finger
Downslanted palpebral fissures
Everted lower lip vermilion
Micrognathia
Autosomal recessive inheritance
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.
Orphanet:2077
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GTR:C3887495
|
444 (70.8%)
|
Trisomy 18p
|
Abnormality of finger
Micrognathia
Telecanthus
Thin vermilion border
Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.
Orphanet:1715
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GTR:C2931811
|
444 (70.8%)
|
LIG4 syndrome
|
Clinodactyly of the 5th finger
Epicanthus
Micrognathia
Thin vermilion border
Autosomal recessive inheritance
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).
Orphanet:99812
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KEGG:H02015
GTR:C1847827
|
444 (70.8%)
|
Intellectual disability-seizures-macrocephaly-obesity syndrome
|
Clinodactyly of the 5th finger
Epicanthus
Micrognathia
Thick lower lip vermilion
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.
Orphanet:369950
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444 (70.8%)
|
Axenfeld-Rieger syndrome
|
Arachnodactyly
Epicanthus
Everted lower lip vermilion
Micrognathia
Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.
Orphanet:782
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GTR:C0265341
GTR:C3495488
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444 (70.8%)
|
Hennekam-Beemer syndrome
|
Clinodactyly of the 5th finger
Micrognathia
Thick lower lip vermilion
Upslanted palpebral fissure
Autosomal recessive inheritance
Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.
Orphanet:2135
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451 (70.8%)
|
Frontorhiny
|
Brachydactyly
Cleft palate
Epicanthus
Hypoplastic frontal sinuses
Autosomal recessive inheritance
Sporadic
Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.
Orphanet:391474
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KEGG:H00528
KEGG:H00850
|
452 (70.8%)
|
Cleft palate-short stature-vertebral anomalies syndrome
|
Epicanthus
Micrognathia
Thin upper lip vermilion
Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.
Orphanet:2015
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452 (70.8%)
|
Distal monosomy 1q
|
Epicanthus
Micrognathia
Smooth philtrum
1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
Orphanet:36367
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452 (70.8%)
|
Mitochondrial myopathy and sideroblastic anemia
|
Distichiasis
Long philtrum
Micrognathia
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
Orphanet:2598
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GTR:C1838103
|
452 (70.8%)
|
10q22.3q23.3 microduplication syndrome
|
Abnormality of the philtrum
Microretrognathia
Upslanted palpebral fissure
10q22.3q23.3 microduplication syndrome is a rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.
Orphanet:276422
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452 (70.8%)
|
14q11.2 microdeletion syndrome
|
Epicanthus
Long philtrum
Micrognathia
Sporadic
14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Orphanet:261120
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452 (70.8%)
|
Potocki-Shaffer syndrome
|
Epicanthus
Micrognathia
Short philtrum
Contiguous gene syndrome
Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).
Orphanet:52022
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GTR:C1832588
|
452 (70.8%)
|
1q44 microdeletion syndrome
|
Epicanthus
Micrognathia
Smooth philtrum
1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
Orphanet:238769
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|
452 (70.8%)
|
Multiple benign circumferential skin creases on limbs
|
Epicanthus
Long philtrum
Micrognathia
Orphanet:2505
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GTR:C0473586
|
452 (70.8%)
|
Pontocerebellar hypoplasia type 7
|
Epicanthus
Micrognathia
Thick upper lip vermilion
Autosomal recessive inheritance
Sporadic
Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.
Orphanet:284339
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|
452 (70.8%)
|
Ogden syndrome
|
Downslanted palpebral fissures
Everted upper lip vermilion
Microretrognathia
X-linked recessive inheritance
X-linked dominant inheritance
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.
Orphanet:276432
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452 (70.8%)
|
22q11.2 microduplication syndrome
|
Epicanthus
Micrognathia
Smooth philtrum
Autosomal dominant inheritance
Sporadic
The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.
Orphanet:1727
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GTR:C2675369
|
452 (70.8%)
|
Lateral meningocele syndrome
|
Epicanthus
Micrognathia
Smooth philtrum
Autosomal dominant inheritance
Orphanet:2789
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KEGG:H01893
Gene Reviews
GTR:C0344487
GTR:C1851710
|
452 (70.8%)
|
6q terminal deletion syndrome
|
Broad philtrum
Micrognathia
Short palpebral fissure
6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.
Orphanet:75857
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|
452 (70.8%)
|
Endocardial fibroelastosis
|
Long philtrum
Microretrognathia
Telecanthus
Autosomal recessive inheritance
X-linked recessive inheritance
X-linked dominant inheritance
Heterogeneous
Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.
Orphanet:2022
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GTR:C0014117
|
466 (70.7%)
|
CODAS syndrome
|
Abnormality of dental enamel
Epicanthus
Short metacarpal
Autosomal recessive inheritance
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.
Orphanet:1458
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KEGG:H01824
GTR:C1838180
|
467 (70.7%)
|
Heart-hand syndrome type 2
|
Abnormality of the dentition
Abnormality of the ulna
Micromelia
Short distal phalanx of the thumb
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).
Orphanet:1350
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GTR:C2931323
|
468 (70.6%)
|
Growth delay due to insulin-like growth factor I resistance
|
Everted lower lip vermilion
Short palm
Smooth philtrum
Autosomal dominant inheritance
Autosomal recessive inheritance
Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).
Orphanet:73273
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KEGG:H01274
GTR:C1849157
|
469 (70.6%)
|
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
|
Dentinogenesis imperfecta
Periorbital fullness
Short foot
Upper limb undergrowth
Autosomal dominant inheritance
Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999.
Orphanet:166277
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GTR:C1858032
|
470 (70.5%)
|
Spondyloepimetaphyseal dysplasia, Shohat type
|
Micromelia
Short femur
Thin vermilion border
Autosomal recessive inheritance
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
Orphanet:93352
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GTR:C1865185
|
471 (70.5%)
|
Fryns-Smeets-Thiry syndrome
|
Micrognathia
Patellar aplasia
Short philtrum
Wide mouth
Orphanet:2058
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472 (70.5%)
|
Craniometadiaphyseal dysplasia, wormian bone type
|
Downslanted palpebral fissures
High palate
Micrognathia
Short tubular bones of the hand
Autosomal dominant inheritance
Autosomal recessive inheritance
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.
Orphanet:85184
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|
473 (70.5%)
|
Seckel syndrome
|
Cleft lip
Clinodactyly of the 5th finger
Downslanted palpebral fissures
Micrognathia
Proximal femoral epiphysiolysis
Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.
Orphanet:808
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GTR:C0265202
|
474 (70.5%)
|
Guttmacher syndrome
|
Short thumb
Small nail
Autosomal dominant inheritance
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.
Orphanet:2957
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KEGG:H00859
GTR:C1867801
|
474 (70.5%)
|
Familial digital arthropathy-brachydactyly
|
Brachydactyly
Short middle phalanx of finger
Shortening of all distal phalanges of the toes
Autosomal dominant inheritance
Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.
Orphanet:85169
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KEGG:H02062
GTR:C1847406
|
474 (70.5%)
|
Hirschsprung disease-type D brachydactyly syndrome
|
Brachydactyly
Short distal phalanx of the thumb
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
Orphanet:2150
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GTR:C1844017
|
474 (70.5%)
|
Heart-hand syndrome type 3
|
Brachydactyly
Short middle phalanx of finger
Short toe
Autosomal dominant inheritance
Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.
Orphanet:1342
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GTR:C1841657
|
474 (70.5%)
|
Brachydactyly type A4
|
Brachydactyly
Short middle phalanx of the 5th finger
Autosomal dominant inheritance
Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.
Orphanet:93394
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GTR:C1862139
|
474 (70.5%)
|
Brachydactyly type B2
|
Short distal phalanx of finger
Short foot
Autosomal dominant inheritance
A rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.
Orphanet:140908
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GTR:C1969652
|
474 (70.5%)
|
X-linked skeletal dysplasia-intellectual disability syndrome
|
Diabetes insipidus
Short middle phalanx of finger
X-linked inheritance
X-linked recessive inheritance
Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.
Orphanet:1436
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|
474 (70.5%)
|
Lung agenesis-heart defect-thumb anomalies syndrome
|
Abnormality of the ribs
Short thumb
Autosomal recessive inheritance
Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies.
Orphanet:1120
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|
474 (70.5%)
|
Weill-Marchesani syndrome
|
Glaucoma
Short thumb
Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.
Orphanet:3449
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GTR:C0265313
|
483 (70.4%)
|
Fibular hemimelia
|
Abnormal morphology of ulna
Craniosynostosis
Short toe
Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone.
Orphanet:93323
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|
484 (70.4%)
|
Cloverleaf skull-multiple congenital anomalies syndrome
|
Micrognathia
Proximal placement of thumb
Rhizomelia
Short philtrum
Autosomal recessive inheritance
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.
Orphanet:93267
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GTR:C1846671
|
485 (70.4%)
|
Intellectual disability, Birk-Barel type
|
Broad philtrum
Congenital finger flexion contractures
Highly arched eyebrow
Micrognathia
Autosomal dominant inheritance
Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.
Orphanet:166108
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KEGG:H00709
Gene Reviews
|
485 (70.4%)
|
8p inverted duplication/deletion syndrome
|
Clinodactyly of the 5th finger
Long philtrum
Micrognathia
Synophrys
8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum.
Orphanet:96092
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|
487 (70.4%)
|
Schneckenbecken dysplasia
|
Cleft palate
Fibular hypoplasia
Short ribs
Autosomal recessive inheritance
Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
Orphanet:3144
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KEGG:H00474
GTR:C0432194
|
488 (70.3%)
|
Sirenomelia
|
Absence of the sacrum
Absent external genitalia
Aplasia/Hypoplasia of the radius
Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.
Orphanet:3169
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GTR:C0037205
|
489 (70.3%)
|
Melnick-Needles syndrome
|
Delayed eruption of teeth
Full cheeks
Micrognathia
Short distal phalanx of finger
X-linked dominant inheritance
Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
Orphanet:2484
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GTR:C0025237
|
489 (70.3%)
|
Progeria-short stature-pigmented nevi syndrome
|
Bifid uvula
Micrognathia
Short distal phalanx of finger
Autosomal dominant inheritance
Autosomal recessive inheritance
Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.
Orphanet:2959
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GTR:C1261128
|
491 (70.3%)
|
Desbuquois syndrome
|
Abnormal eyelash morphology
Anteverted nares
Radioulnar synostosis
Short metacarpal
Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.
Orphanet:1425
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GTR:C0432242
|
492 (70.3%)
|
Pseudohypoparathyroidism type 1C
|
Conjunctivitis
Delayed eruption of teeth
Short 3rd metacarpal
Short fifth metatarsal
Autosomal dominant inheritance
Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).
Orphanet:79444
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GTR:C2932716
|
492 (70.3%)
|
Pseudohypoparathyroidism type 1A
|
Conjunctivitis
Delayed eruption of teeth
Short 3rd metacarpal
Short fifth metatarsal
Autosomal dominant inheritance
Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).
Orphanet:79443
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KEGG:H00244
Gene Reviews
GTR:C3494506
|
494 (70.3%)
|
Symbrachydactyly of hands and feet
|
Abnormality of the ulna
Aplasia/Hypoplasia of the radius
Aplasia/Hypoplasia of the thumb
Scoliosis
Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.
Orphanet:1570
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GTR:C2931719
|
494 (70.3%)
|
Humero-radio-ulnar synostosis
|
Abnormality of the ureter
Aplasia/Hypoplasia of the thumb
Radioulnar synostosis
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.
Orphanet:3266
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|
496 (70.3%)
|
Postaxial polydactyly-dental and vertebral anomalies syndrome
|
Brachydactyly
Cleft palate
Epicanthus
Hypoplastic vertebral bodies
Autosomal recessive inheritance
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.
Orphanet:2916
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GTR:C1849732
|
497 (70.2%)
|
SCARF syndrome
|
Epicanthus
Long philtrum
Short sternum
X-linked recessive inheritance
SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.
Orphanet:3134
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Monarch
GTR:C1839321
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498 (70.2%)
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Eye defects-arachnodactyly-cardiopathy syndrome
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Arachnodactyly
Cleft palate
Craniofacial hyperostosis
Non-midline cleft lip
Radioulnar synostosis
Orphanet:2725
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499 (70.2%)
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Aase-Smith syndrome
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Aplasia/Hypoplasia of the radius
Cleft palate
Trismus
Autosomal dominant inheritance
A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.
Orphanet:916
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GTR:C0220686
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500 (70.2%)
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Acromesomelic dysplasia, Grebe type
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Aplasia/Hypoplasia of the thumb
Brachydactyly
Fibular hypoplasia
Short foot
Autosomal recessive inheritance
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.
Orphanet:2098
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Monarch
KEGG:H00466
GTR:C0265260
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