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
Gene Reviews
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
Gene Reviews
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
Gene Reviews
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
|
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
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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
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471 (70.5%)
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Fryns-Smeets-Thiry syndrome
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Micrognathia
Patellar aplasia
Short philtrum
Wide mouth
Orphanet:2058
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472 (70.5%)
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Craniometadiaphyseal dysplasia, wormian bone type
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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%)
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Seckel syndrome
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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
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474 (70.5%)
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Guttmacher syndrome
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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
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474 (70.5%)
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Familial digital arthropathy-brachydactyly
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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
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474 (70.5%)
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Hirschsprung disease-type D brachydactyly syndrome
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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
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474 (70.5%)
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Heart-hand syndrome type 3
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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
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474 (70.5%)
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Brachydactyly type A4
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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
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474 (70.5%)
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Brachydactyly type B2
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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
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474 (70.5%)
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X-linked skeletal dysplasia-intellectual disability syndrome
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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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