601 (68.2%)
|
Osteopathia striata-cranial sclerosis syndrome
|
Abnormality of the metaphysis
Cleft palate
Epicanthus
Micrognathia
X-linked dominant inheritance
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
Orphanet:2780
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KEGG:H00444
GTR:C0432268
|
602 (68.2%)
|
Lowry-MacLean syndrome
|
Cleft palate
Downslanted palpebral fissures
Micrognathia
Single transverse palmar crease
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.
Orphanet:2409
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GTR:C0796020
|
603 (68.2%)
|
Sparse hair-short stature-skin anomalies syndrome
|
Short thumb
Single median maxillary incisor
Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked.
Orphanet:79132
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603 (68.2%)
|
Autosomal dominant deafness-onychodystrophy syndrome
|
Abnormality of the dentition
Short thumb
Autosomal dominant inheritance
Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
Orphanet:79499
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KEGG:H02219
GTR:C2675730
|
603 (68.2%)
|
Vitamin K antagonist embryofetopathy
|
Macroglossia
Short distal phalanx of finger
Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.
Orphanet:1914
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GTR:C0265374
|
603 (68.2%)
|
Pycnodysostosis
|
Abnormality of the dentition
Short distal phalanx of finger
Short toe
Autosomal recessive inheritance
Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.
Orphanet:763
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KEGG:H00273
GTR:C0238402
|
607 (68.2%)
|
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
|
Cleft palate
Hypoplasia of the odontoid process
Micromelia
Short femoral neck
Autosomal dominant inheritance
Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
Orphanet:93346
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KEGG:H02187
Gene Reviews
GTR:C0700635
|
608 (68.2%)
|
Lissencephaly type 3-metacarpal bone dysplasia syndrome
|
Facial edema
Short distal phalanx of finger
Short metacarpal
Autosomal recessive inheritance
This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence (see these terms).
Orphanet:86822
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|
609 (68.2%)
|
Metaphyseal anadysplasia
|
Abnormality of the metaphysis
Abnormality of the ulna
Aplasia/Hypoplasia of the radius
Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
Orphanet:1040
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GTR:C0432226
|
609 (68.2%)
|
Femur-fibula-ulna complex
|
Abnormality of the ulna
Micromelia
Short humerus
Split hand
Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal.
Orphanet:2019
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GTR:C2363814
|
609 (68.2%)
|
Weismann-Netter syndrome
|
Abnormality of the thyroid gland
Abnormality of the ulna
Aplasia/Hypoplasia of the radius
Autosomal dominant inheritance
Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.
Orphanet:3344
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GTR:C1862172
|
612 (68.1%)
|
Thrombotic thrombocytopenic purpura
|
Absent radius
Facial edema
Keratoconjunctivitis
Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP (see these terms).
Orphanet:54057
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GTR:C0034155
|
613 (68.1%)
|
Hypohidrotic ectodermal dysplasia
|
Cutaneous syndactyly
Hypoplasia of the maxilla
Keratoconjunctivitis sicca
Thick vermilion border
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms).
Orphanet:238468
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GTR:C1706004
GTR:C0406702
GTR:C0162359
|
614 (68.1%)
|
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
|
Downslanted palpebral fissures
Malar flattening
Short philtrum
Tapered finger
X-linked recessive inheritance
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.
Orphanet:85280
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GTR:C1845450
|
614 (68.1%)
|
X-linked intellectual disability, Brooks type
|
Epicanthus inversus
Malar flattening
Tapered finger
Thin upper lip vermilion
X-linked recessive inheritance
X-linked intellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.
Orphanet:3056
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|
614 (68.1%)
|
PEHO syndrome
|
Abnormality of upper lip
Epicanthus
Malar flattening
Tapered finger
Autosomal dominant inheritance
Autosomal recessive inheritance
PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.
Orphanet:2836
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KEGG:H02252
GTR:C0796122
GTR:C1850055
|
617 (68.0%)
|
Low isolated anorectal malformation
|
Absent radius
Bifid scrotum
Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation.
Orphanet:171215
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GTR:C0345218
|
617 (68.0%)
|
Auriculoosteodysplasia
|
Aplasia/Hypoplasia of the radius
Macrotia
Autosomal dominant inheritance
A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.
Orphanet:114
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GTR:C1862381
|
617 (68.0%)
|
Kuskokwim syndrome
|
Abnormal clavicle morphology
Aplasia/Hypoplasia of the patella
Aplasia/Hypoplasia of the radius
A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
Orphanet:1149
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GTR:C1859709
|
617 (68.0%)
|
High isolated anorectal malformation
|
Absent radius
Bifid scrotum
High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence.
Orphanet:171201
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GTR:C0345210
|
617 (68.0%)
|
46,XX disorder of sex development-anorectal anomalies syndrome
|
Aplasia/Hypoplasia of the radius
Multicystic kidney dysplasia
46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut.
Orphanet:2973
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|
617 (68.0%)
|
Atresia of urethra
|
Absent radius
Neurogenic bladder
Aa rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.
Orphanet:105
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GTR:C0345345
GTR:C1610065
|
623 (68.0%)
|
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
|
Abnormality of the dentition
Abnormality of the metacarpal bones
Epicanthus
Short hallux
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).
Orphanet:3224
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GTR:C2931654
|
624 (68.0%)
|
Laurin-Sandrow syndrome
|
Abnormality of the nose
Absent radius
Aplasia/Hypoplasia of the thumb
Downturned corners of mouth
Autosomal dominant inheritance
Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.
Orphanet:2378
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GTR:C1851100
|
625 (67.9%)
|
Duplication/inversion 15q11
|
Brachycephaly
Brachydactyly
Clinodactyly of the 5th finger
Downslanted palpebral fissures
Short philtrum
The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.
Orphanet:3306
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GTR:C3711376
|
625 (67.9%)
|
Alpha-thalassemia-X-linked intellectual disability syndrome
|
Brachydactyly
Clinodactyly of the 5th finger
Epicanthus
Microcephaly
Tented upper lip vermilion
X-linked recessive inheritance
X-linked dominant inheritance
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.
Orphanet:847
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KEGG:H01752
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GTR:C1845055
|
627 (67.9%)
|
Dysmorphism-cleft palate-loose skin syndrome
|
Cleft palate
Epicanthus
Micrognathia
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss.
Orphanet:1779
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|
627 (67.9%)
|
Isotretinoin-like syndrome
|
Cleft palate
Micrognathia
Upslanted palpebral fissure
Autosomal recessive inheritance
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy.
Orphanet:2306
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GTR:C0432364
|
627 (67.9%)
|
Double outlet right ventricle
|
Cleft palate
Epicanthus
Micrognathia
Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.
Orphanet:3426
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GTR:C0013069
|
630 (67.9%)
|
Böök syndrome
|
Abnormal eyebrow morphology
Abnormality of the dentition
Small hand
Autosomal dominant inheritance
Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.
Orphanet:1262
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GTR:C0457014
|
631 (67.8%)
|
Acrodysostosis with multiple hormone resistance
|
Absent/hypoplastic paranasal sinuses
Malar flattening
Short metacarpal
Short metatarsal
Orphanet:280651
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|
632 (67.8%)
|
Catel-Manzke syndrome
|
Abnormality of epiphysis morphology
Cleft palate
Clinodactyly of the 5th finger
Highly arched eyebrow
Micrognathia
Autosomal recessive inheritance
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.
Orphanet:1388
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KEGG:H01845
GTR:C1844887
|
633 (67.8%)
|
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
|
Abnormality of the metaphysis
Downslanted palpebral fissures
Malar flattening
Tapered finger
Thin vermilion border
X-linked recessive inheritance
A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.
Orphanet:86818
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GTR:C1846242
|
634 (67.8%)
|
Hidrotic ectodermal dysplasia
|
Conjunctivitis
Small hand
Sparse eyelashes
Autosomal dominant inheritance
Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
Orphanet:189
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KEGG:H00648
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GTR:C0162361
|
634 (67.8%)
|
Pachydermoperiostosis
|
Blepharitis
Coarse facial features
Small hand
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.
Orphanet:2796
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|
636 (67.8%)
|
Multiple epiphyseal dysplasia type 4
|
Cleft palate
Small hand
Autosomal recessive inheritance
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
Orphanet:93307
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GTR:C1847593
|
636 (67.8%)
|
Oculo-palato-cerebral syndrome
|
Cleft palate
Short foot
Small hand
Autosomal recessive inheritance
Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.
Orphanet:2714
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GTR:C1850338
|
638 (67.8%)
|
Plasmacytoma
|
Cheilitis
Dacryocystitis
Missing ribs
Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.
Orphanet:86855
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GTR:C0032131
|
639 (67.7%)
|
Kyphomelic dysplasia
|
Flat face
Large hands
Micrognathia
Micromelia
Autosomal recessive inheritance
A rare primary bone dysplasia characterized, radiologically, by short, stubby long bones, severely angulated femurs and lesser bowing of other long bones (mild, moderate or no bowing), short and wide illiac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature. Regression of femora angulation is observed with advancing age.
Orphanet:1801
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GTR:C0432239
|
640 (67.7%)
|
Brachydactyly-arterial hypertension syndrome
|
Hypertension
Short metacarpal
Autosomal dominant inheritance
Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.
Orphanet:1276
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GTR:C1862170
|
640 (67.7%)
|
Talo-patello-scaphoid osteolysis
|
Enlarged joints
Short 4th metacarpal
Autosomal recessive inheritance
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.
Orphanet:50809
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GTR:C1864784
|
642 (67.7%)
|
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
|
Bilateral single transverse palmar creases
Mandibular prognathia
Short philtrum
Synophrys
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23.
Orphanet:85317
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|
643 (67.7%)
|
Mowat-Wilson syndrome
|
Broad hallux phalanx
Cleft upper lip
Epicanthus
Microcephaly
Tapered finger
Autosomal dominant inheritance
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR; see this term) and variable congenital malformations.
Orphanet:2152
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KEGG:H00908
Gene Reviews
GTR:C1856113
|
644 (67.7%)
|
Wolcott-Rallison syndrome
|
Abnormality of the metaphysis
Brachydactyly
Epicanthus
Microcephaly
Thin vermilion border
Autosomal recessive inheritance
Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.
Orphanet:1667
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KEGG:H00766
GTR:C0432217
|
645 (67.7%)
|
3MC syndrome
|
Craniosynostosis
Downslanted palpebral fissures
Oral cleft
Radioulnar synostosis
3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.
Orphanet:293843
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|
646 (67.7%)
|
Penoscrotal transposition
|
Epicanthus
Micrognathia
Patellar aplasia
Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).
Orphanet:2842
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GTR:C1868854
|
647 (67.7%)
|
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
|
Cleft palate
Epicanthus
Retrognathia
Sandal gap
X-linked recessive inheritance
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.
Orphanet:1812
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GTR:C1857053
|
648 (67.6%)
|
Porencephaly
|
Dacryocystitis
Hemiatrophy
Micrognathia
Sialadenitis
A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia.
Orphanet:2940
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GTR:C0302892
|
649 (67.6%)
|
Microcephaly-albinism-digital anomalies syndrome
|
Microcephaly
Micrognathia
Short distal phalanx of finger
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.
Orphanet:2513
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GTR:C1859910
|
650 (67.6%)
|
Joubert syndrome
|
Hand polydactyly
Highly arched eyebrow
Micrognathia
Oral cleft
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Orphanet:475
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|
651 (67.5%)
|
Dyssegmental dysplasia, Silverman-Handmaker type
|
Cleft palate
Micrognathia
Micromelia
Autosomal recessive inheritance
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.
Orphanet:1865
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KEGG:H00493
KEGG:H02155
|
651 (67.5%)
|
Kniest dysplasia
|
Cleft palate
Glossoptosis
Micrognathia
Micromelia
Autosomal dominant inheritance
Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).
Orphanet:485
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KEGG:H02070
Gene Reviews
GTR:C0265279
|
653 (67.5%)
|
Iniencephaly
|
Mandibular aplasia
Narrow mouth
Oral cleft
Rhizomelia
Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.
Orphanet:63259
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GTR:C0152234
|
654 (67.5%)
|
H syndrome
|
Cleft upper lip
Hallux valgus
Shallow orbits
Upper eyelid edema
Autosomal recessive inheritance
A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.
Orphanet:168569
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KEGG:H00815
|
655 (67.5%)
|
Aicardi-Goutières syndrome
|
Chilblains
Eyelid coloboma
Microcephaly
An inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.
Orphanet:51
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GTR:C0393591
|
656 (67.4%)
|
Autosomal dominant spondylocostal dysostosis
|
Cleft palate
Missing ribs
Upslanted palpebral fissure
A very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.
Orphanet:1797
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|
657 (67.4%)
|
Acrocardiofacial syndrome
|
Abnormality of the metacarpal bones
Camptodactyly of finger
Cleft palate
Cleft upper lip
Long eyelashes
Autosomal recessive inheritance
A rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.
Orphanet:2008
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GTR:C1838121
|
658 (67.3%)
|
Cortical blindness-intellectual disability-polydactyly syndrome
|
Abnormal palate morphology
Long philtrum
Microretrognathia
Postaxial hand polydactyly
Autosomal recessive inheritance
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.
Orphanet:1389
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GTR:C1857568
|
658 (67.3%)
|
Crisponi syndrome
|
Bilateral camptodactyly
Long philtrum
Micrognathia
Narrow mouth
Autosomal recessive inheritance
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
Orphanet:1545
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KEGG:H00935
Gene Reviews
GTR:C1832409
|
658 (67.3%)
|
Infantile-onset X-linked spinal muscular atrophy
|
Adducted thumb
Long philtrum
Micrognathia
Open mouth
X-linked recessive inheritance
X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.
Orphanet:1145
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GTR:C1844934
|
658 (67.3%)
|
Cataract-intellectual disability-hypogonadism syndrome
|
High palate
Micrognathia
Short philtrum
Ulnar deviation of finger
Autosomal recessive inheritance
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
Orphanet:1387
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KEGG:H00797
Gene Reviews
GTR:C0796037
|
658 (67.3%)
|
PLAA-associated neurodevelopmental disorder
|
High palate
Micrognathia
Postaxial hand polydactyly
Smooth philtrum
Orphanet:521426
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|
663 (67.3%)
|
Langer mesomelic dysplasia
|
Abnormality of the ulna
High palate
Micromelia
Short metacarpal
Autosomal recessive inheritance
A rare disorder characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
Orphanet:2632
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GTR:C0432230
|
664 (67.3%)
|
Metaphyseal acroscyphodysplasia
|
Brachydactyly
Epicanthus
Micromelia
Short toe
Autosomal recessive inheritance
Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.
Orphanet:1240
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GTR:C1855243
|
665 (67.3%)
|
Campomelia, Cumming type
|
Brachydactyly
Cleft palate
Micromelia
Autosomal recessive inheritance
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.
Orphanet:1318
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GTR:C1859371
|
666 (67.2%)
|
Familial osteodysplasia, Anderson type
|
Aplasia/hypoplasia of the femur
Carious teeth
Missing ribs
Thick eyebrow
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.
Orphanet:2769
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GTR:C1850186
|
667 (67.2%)
|
SPONASTRIME dysplasia
|
Malar flattening
Mesomelia
Thick vermilion border
Autosomal recessive inheritance
A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.
Orphanet:93357
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GTR:C1300260
|
668 (67.1%)
|
Neurogenic arthrogryposis multiplex congenita
|
Aplasia/Hypoplasia of the radius
Micrognathia
Round face
Autosomal recessive inheritance
Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.
Orphanet:1143
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KEGG:H02299
GTR:C1859721
|
669 (67.1%)
|
Metatropic dysplasia
|
Cleft palate
Clinodactyly of the 5th finger
Hypoplastic cervical vertebrae
Micromelia
Autosomal dominant inheritance
Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
Orphanet:2635
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KEGG:H02184
Gene Reviews
GTR:C0265281
|
670 (67.1%)
|
Microcephaly-brachydactyly-kyphoscoliosis syndrome
|
Broad thumb
Downslanted palpebral fissures
High, narrow palate
Malar flattening
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait.
Orphanet:3433
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GTR:C2931177
|
671 (67.1%)
|
Mucopolysaccharidosis type 1
|
Abnormality of the metaphysis
Cicatricial entropion
Sinusitis
Split hand
Thick lower lip vermilion
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.
Orphanet:579
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GTR:C0023786
GTR:C2713321
|
672 (67.1%)
|
Sarcoidosis
|
Cheilitis
Cicatricial entropion
Finger swelling
Palmar pits
Sinusitis
Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.
Orphanet:797
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GTR:C0036202
|
673 (67.1%)
|
Fibular aplasia-ectrodactyly syndrome
|
Abnormality of the ulna
Aplasia/Hypoplasia of the fibula
Split hand
Autosomal dominant inheritance
A rare disorder characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.
Orphanet:1118
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GTR:C1862100
|
673 (67.1%)
|
Boomerang dysplasia
|
Abnormality of the ulna
Aplasia/Hypoplasia of the fibula
Cryptorchidism
Micromelia
Autosomal dominant inheritance
Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
Orphanet:1263
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KEGG:H02067
Gene Reviews
GTR:C0432201
|
675 (67.0%)
|
Developmental malformations-deafness-dystonia syndrome
|
Hypoplastic scapulae
Macroglossia
Micromelia
Oral cleft
Autosomal dominant inheritance
Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.
Orphanet:79107
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KEGG:H01255
Gene Reviews
|
676 (67.0%)
|
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
|
Incomplete cleft of the upper lip
Micrognathia
Oral cleft
The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.
Orphanet:77300
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|
676 (67.0%)
|
Lethal osteosclerotic bone dysplasia
|
Gingival fibromatosis
Median cleft lip and palate
Micrognathia
Autosomal recessive inheritance
A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
Orphanet:1832
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KEGG:H00968
GTR:C1850106
|
676 (67.0%)
|
Triploidy
|
Micrognathia
Non-midline cleft lip
Wide mouth
Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.
Orphanet:3376
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GTR:C0333693
|
679 (67.0%)
|
Scalp-ear-nipple syndrome
|
Abnormality of the dentition
Eyelid coloboma
Syndactyly
Autosomal dominant inheritance
A rare syndrome characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Renal and urinary tract abnormalities, as well as cataract, have also been observed.
Orphanet:2036
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GTR:C1867020
|
680 (67.0%)
|
17q23.1q23.2 microdeletion syndrome
|
Epicanthus
Narrow mouth
Patellar hypoplasia
Sporadic
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
Orphanet:261279
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|
681 (67.0%)
|
Neurofibromatosis type 2
|
Nasal obstruction
Retinal hamartoma
Small finger
Autosomal dominant inheritance
Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.
Orphanet:637
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KEGG:H01438
Gene Reviews
GTR:C0027832
GTR:C0027859
GTR:C1136041
|
682 (67.0%)
|
Syndactyly type 4
|
Hand polydactyly
Short tibia
Autosomal dominant inheritance
Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).
Orphanet:93405
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GTR:C1861355
|
682 (67.0%)
|
Autosomal recessive axonal neuropathy with neuromyotonia
|
Hyperhidrosis
Short third metatarsal
Autosomal recessive inheritance
A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.
Orphanet:324442
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|
684 (67.0%)
|
XK aprosencephaly syndrome
|
Abnormal morphology of the radius
Narrow mouth
Phocomelia
Autosomal recessive inheritance
XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.
Orphanet:3469
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GTR:C0431348
GTR:C0795952
|
685 (66.9%)
|
Hereditary acrokeratotic poikiloderma
|
Abnormality of the metacarpal bones
Camptodactyly of finger
Ectropion
Narrow mouth
Trismus
Orphanet:2907
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GTR:C0406556
|
686 (66.9%)
|
Nance-Horan syndrome
|
Abnormality of the dentition
Mandibular prognathia
Short metacarpal
X-linked dominant inheritance
Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.
Orphanet:627
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KEGG:H01292
Gene Reviews
GTR:C0796085
|
687 (66.9%)
|
16p13.11 microdeletion syndrome
|
Camptodactyly of finger
Cleft upper lip
Downslanted palpebral fissures
Microcephaly
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.
Orphanet:261236
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|
687 (66.9%)
|
Branchio-oculo-facial syndrome
|
Dolichocephaly
Non-midline cleft lip
Preaxial hand polydactyly
Telecanthus
Autosomal dominant inheritance
Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
Orphanet:1297
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KEGG:H00817
Gene Reviews
GTR:C0376524
|
689 (66.9%)
|
Acrogeria
|
Convex nasal ridge
Hypodontia
Micrognathia
Small hand
Orphanet:2500
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GTR:C0238590
GTR:C0406584
|
689 (66.9%)
|
Central precocious puberty
|
Micrognathia
Small hand
Tongue nodules
Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys).
Orphanet:759
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GTR:C0342543
|
689 (66.9%)
|
Autosomal dominant spastic paraplegia type 17
|
Microdontia
Micrognathia
Small hand
Triangular face
Autosomal dominant inheritance
A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.
Orphanet:100998
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GTR:C2931276
|
692 (66.9%)
|
Beta-mercaptolactate cysteine disulfiduria
|
Arachnodactyly
Downslanted palpebral fissures
High palate
Micromelia
Autosomal recessive inheritance
An extremely rare disorder of methionine cycle and sulfur amino acid metabolism characterized by increased urine excretion of beta-mercaptolactate-cysteine disulfide (due to deficiency of mercaptopyruvate sulfurtransferase activity in erythrocytes), leading to a positive cyanide nitroprusside test. Association with intellectual disability, congenital lens dislocation, and behavioral abnormalities has been reported, however the causal link remains to be established. There have been no further descriptions in the literature since 1981.
Orphanet:1035
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GTR:C0796055
|
692 (66.9%)
|
X-linked dominant chondrodysplasia punctata
|
Abnormality of the dentition
Clinodactyly of the 5th finger
Epicanthus
Rhizomelia
X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
Orphanet:35173
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GTR:C0263627
GTR:C0282102
|
692 (66.9%)
|
Ito hypomelanosis
|
Abnormality of the dentition
Hemiatrophy
Triphalangeal thumb
Upslanted palpebral fissure
Autosomal dominant inheritance
Autosomal recessive inheritance
X-linked recessive inheritance
Heterogeneous
Somatic mosaicism
Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.
Orphanet:435
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KEGG:H00885
GTR:C0022283
|
692 (66.9%)
|
Systemic lupus erythematosus
|
Blepharitis
Chilblains
Hemiatrophy
Oral ulcer
Orphanet:536
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|
696 (66.9%)
|
Filippi syndrome
|
Clinodactyly of the 5th finger
Downslanted palpebral fissures
Enlarged epiphyses
Microcephaly
Short philtrum
Autosomal recessive inheritance
Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.
Orphanet:3255
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KEGG:H01857
GTR:C0795940
|
697 (66.9%)
|
Monosomy 22q13
|
Dental crowding
Epicanthus
Large hands
Malar flattening
Autosomal dominant inheritance
Sporadic
Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
Orphanet:48652
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KEGG:H01238
Gene Reviews
GTR:C1853490
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698 (66.9%)
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Renal dysplasia
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Micrognathia
Potter facies
Short 4th metacarpal
Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.
Orphanet:93108
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Monarch
GTR:C3536714
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699 (66.9%)
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Rhizomelic chondrodysplasia punctata
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Abnormality of the dentition
Epicanthus
Rhizomelia
Rhizomelic chondrodysplasia is a form chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is calcifications near joints at birth.
Orphanet:177
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Monarch
GTR:C0282529
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700 (66.9%)
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Acrofacial dysostosis, Weyers type
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Abnormality of the dentition
Overlapping fingers
Small hand
Autosomal dominant inheritance
A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.
Orphanet:952
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Monarch
KEGG:H02158
GTR:C0457013
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