301 (73.8%)
|
orofaciodigital syndrome X
|
Cleft palate
Hand oligodactyly
Retrognathia
Telecanthus
Autosomal dominant inheritance
Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.
OMIM:165590
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Monarch
GTR:C1833796
|
302 (73.8%)
|
brachydactyly-preaxial hallux varus syndrome
|
Hitchhiker thumb
Short metatarsal
Short thumb
Autosomal dominant inheritance
Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.
OMIM:112450
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Monarch
GTR:C1862162
|
302 (73.8%)
|
Mononen-Karnes-Senac syndrome
|
Aplasia of the distal phalanx of the 2nd finger
Mild short stature
Short 1st metacarpal
Short first metatarsal
X-linked dominant inheritance
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.
OMIM:301940
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Monarch
GTR:C2931060
|
302 (73.8%)
|
Ballard syndrome
|
Brachydactyly
Short 5th finger
Short fourth metatarsal
Autosomal dominant inheritance
Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.
OMIM:112440
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Monarch
GTR:C1862163
|
302 (73.8%)
|
hand-foot-genital syndrome
|
Chordee
Short 2nd toe
Short first metatarsal
Shortening of all middle phalanges of the fingers
Autosomal dominant inheritance
Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
OMIM:140000
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Monarch
KEGG:H00460
Gene Reviews
GTR:C1841679
|
306 (73.8%)
|
camptodactyly syndrome, Guadalajara type 1
|
Absent frontal sinuses
Epicanthus
Fibular hypoplasia
Narrow mouth
Short palm
Autosomal recessive inheritance
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.
OMIM:211910
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Monarch
GTR:C1859359
|
307 (73.8%)
|
Baratela-Scott syndrome
|
Cleft palate
Epicanthus
Rhizomelia
Short metacarpal
OMIM:300881
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Monarch
GTR:C3550876
|
308 (73.7%)
|
craniosynostosis-intellectual disability-clefting syndrome
|
Forearm undergrowth
Lower limb undergrowth
Oral cleft
Autosomal recessive inheritance
A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.
OMIM:218650
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Monarch
GTR:C1857472
|
309 (73.7%)
|
midline malformations, multiple, with limb abnormalities and hypopituitarism
|
Cleft palate
Cleft upper lip
Micromelia
Overlapping fingers
Autosomal recessive inheritance
OMIM:601016
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Monarch
GTR:C1832874
|
310 (73.7%)
|
acrofacial dysostosis Rodriguez type
|
Fibular hypoplasia
Micrognathia
Narrow mouth
Short philtrum
Autosomal recessive inheritance
Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.
OMIM:201170
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Monarch
GTR:C1860119
|
311 (73.6%)
|
Adams-Oliver syndrome 3
|
Blepharophimosis
Short distal phalanx of finger
Short metatarsal
Autosomal dominant inheritance
Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.
OMIM:614814
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Monarch
Gene Reviews
GTR:C3553748
|
311 (73.6%)
|
brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability
|
Aplasia/Hypoplasia of toe
Epicanthus
Short metatarsal
Short middle phalanx of finger
Autosomal recessive inheritance
OMIM:613627
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Monarch
GTR:C3150890
|
311 (73.6%)
|
Leri pleonosteosis
|
Blepharophimosis
Short metatarsal
Short palm
Short thumb
Autosomal dominant inheritance
Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.
OMIM:151200
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Monarch
GTR:C1835450
|
314 (73.6%)
|
mandibulofacial dysostosis with mental deficiency
|
Lower eyelid coloboma
Micrognathia
Wide mouth
Autosomal recessive inheritance
OMIM:248400
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Monarch
GTR:C1855432
|
315 (73.6%)
|
chromosome 16p12.2-p11.2 deletion syndrome
|
Brachydactyly
Epicanthus
Micrognathia
Thin upper lip vermilion
Sporadic
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
OMIM:613604
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Monarch
GTR:C3150858
GTR:C4304597
|
315 (73.6%)
|
Okur-Chung neurodevelopmental syndrome
|
Brachydactyly
Epicanthus
Micrognathia
Thin upper lip vermilion
Autosomal dominant inheritance
OMIM:617062
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Monarch
GTR:C4310739
|
315 (73.6%)
|
intellectual disability, X-linked, syndromic, 35
|
Brachydactyly
Epicanthus
Microretrognathia
Thin upper lip vermilion
X-linked recessive inheritance
OMIM:300998
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Monarch
|
315 (73.6%)
|
Coffin-Siris syndrome 6
|
Brachydactyly
Epicanthus
Micrognathia
Short philtrum
Autosomal dominant inheritance
OMIM:617808
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Monarch
GTR:CN696018
|
315 (73.6%)
|
intellectual disability, X-linked, syndromic 33
|
Downslanted palpebral fissures
Microretrognathia
Short digit
Thin upper lip vermilion
X-linked recessive inheritance
Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.
OMIM:300966
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Monarch
GTR:C4225418
|
320 (73.6%)
|
atelosteogenesis type II
|
Cleft palate
Micrognathia
Micromelia
Short middle phalanx of finger
Autosomal recessive inheritance
Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
OMIM:256050
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Monarch
KEGG:H00515
Gene Reviews
GTR:C1850554
GTR:C1850555
|
321 (73.6%)
|
cardiospondylocarpofacial syndrome
|
Brachydactyly
Long philtrum
Short foot
Telecanthus
Autosomal dominant inheritance
Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.
OMIM:157800
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Monarch
KEGG:H02226
GTR:CN204053
|
321 (73.6%)
|
hypertrichotic osteochondrodysplasia Cantu type
|
Epicanthus
Short hallux
Thick upper lip vermilion
Autosomal dominant inheritance
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
OMIM:239850
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Monarch
Gene Reviews
GTR:C0795905
|
323 (73.6%)
|
autosomal recessive faciodigitogenital syndrome
|
Deep philtrum
Downslanted palpebral fissures
Short foot
Trismus
Autosomal recessive inheritance
Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
OMIM:227330
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Monarch
|
324 (73.6%)
|
Fraser syndrome 3
|
Convex nasal ridge
Cryptophthalmos
Micrognathia
Short toe
Autosomal recessive inheritance
OMIM:617667
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Monarch
GTR:C4540040
|
325 (73.5%)
|
postaxial tetramelic oligodactyly
|
Partial-complete absence of 5th phalanges
Radial bowing
Single transverse palmar crease
Autosomal dominant inheritance
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.
OMIM:176240
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Monarch
GTR:C1867924
|
326 (73.5%)
|
pelviscapular dysplasia
|
Blepharophimosis
Cleft palate
Dislocated radial head
Fibular aplasia
Micrognathia
Autosomal recessive inheritance
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.
OMIM:260660
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Monarch
KEGG:H00873
GTR:C1850040
|
327 (73.5%)
|
cleft lip/palate-intestinal malrotation-cardiopathy syndrome
|
Abnormal hand morphology
Abnormality of the tongue
Cleft upper lip
Short palm
Autosomal recessive inheritance
Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.
OMIM:601165
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Monarch
GTR:C2931750
|
328 (73.4%)
|
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
|
Abnormal hand morphology
Long philtrum
Retrognathia
Small hand
X-linked recessive inheritance
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.
OMIM:300845
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Monarch
GTR:C3151857
|
329 (73.4%)
|
chromosome 15q26-qter deletion syndrome
|
Blepharophimosis
Micrognathia
Short middle phalanx of finger
Triangular face
Sporadic
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
OMIM:612626
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Monarch
GTR:C2675463
|
329 (73.4%)
|
short stature with microcephaly and distinctive facies
|
High forehead
Microretrognathia
Short distal phalanx of finger
Telecanthus
Autosomal recessive inheritance
OMIM:615789
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Monarch
GTR:C4014339
|
331 (73.4%)
|
Pierre Robin syndrome-faciodigital anomaly syndrome
|
Cleft palate
Glossoptosis
Micrognathia
Short distal phalanx of finger
X-linked inheritance
This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.
OMIM:311895
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Monarch
GTR:C2931064
|
331 (73.4%)
|
cleft palate-large ears-small head syndrome
|
Cleft palate
Micrognathia
Short distal phalanx of finger
Autosomal dominant inheritance
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.
OMIM:181180
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Monarch
GTR:C1867023
|
333 (73.4%)
|
radial ray hypoplasia-choanal atresia syndrome
|
Choanal stenosis
Hypoplasia of the radius
Short thumb
Autosomal dominant inheritance
Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.
OMIM:179270
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Monarch
|
333 (73.4%)
|
Fanconi anemia complementation group I
|
Hypoplasia of the radius
Short 1st metacarpal
Triangular face
Autosomal recessive inheritance
Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.
OMIM:609053
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Monarch
Gene Reviews
GTR:C1836861
|
333 (73.4%)
|
VACTERL/vater association
|
Choanal atresia
Hypoplasia of the radius
Short thumb
Sporadic
VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
OMIM:192350
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Monarch
GTR:C0220708
GTR:C1735591
GTR:CN206312
|
336 (73.3%)
|
acrodysostosis 1 with or without hormone resistance
|
Epicanthus
Hypodontia
Hypoplastic vertebral bodies
Short metatarsal
Short palm
Autosomal dominant inheritance
An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.
OMIM:101800
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Monarch
KEGG:H02211
GTR:C3276228
|
337 (73.3%)
|
Saethre-Chotzen syndrome
|
Abnormal nasolacrimal system morphology
Brachydactyly
Cleft palate
Hypoplasia of the maxilla
Radioulnar synostosis
Autosomal dominant inheritance
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
OMIM:101400
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Monarch
KEGG:H01991
Gene Reviews
GTR:C0175699
|
338 (73.3%)
|
Fibulo-ulnar hypoplasia-renal anomalies syndrome
|
Hypoplasia of the ulna
Micrognathia
Autosomal recessive inheritance
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.
OMIM:228940
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Monarch
GTR:C1856727
|
338 (73.3%)
|
Langer mesomelic dysplasia
|
Hypoplasia of the radius
Hypoplasia of the ulna
Micrognathia
Autosomal recessive inheritance
Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.
OMIM:249700
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Monarch
GTR:C0432230
|
340 (73.1%)
|
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
|
Downslanted palpebral fissures
Micrognathia
Narrow mouth
Short humerus
Autosomal recessive inheritance
OMIM:602471
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Monarch
GTR:C1865361
|
341 (73.1%)
|
genitopatellar syndrome
|
Brachydactyly
Delayed eruption of teeth
Downslanted palpebral fissures
Micrognathia
Radioulnar synostosis
Autosomal dominant inheritance
Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
OMIM:606170
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Monarch
KEGG:H01794
Gene Reviews
GTR:C1853566
|
342 (73.1%)
|
radius, aplasia of, with cleft lip/palate
|
Absent radius
Cleft palate
Cleft upper lip
OMIM:179400
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Monarch
GTR:C1867395
|
343 (73.1%)
|
midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
|
Brachydactyly
Epicanthus
Malar flattening
Thick lower lip vermilion
Autosomal recessive inheritance
OMIM:608624
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Monarch
GTR:C1837730
|
344 (73.0%)
|
odontochondrodysplasia 1
|
Long philtrum
Micromelia
Narrow face
Short long bone
Short metacarpal
Autosomal recessive inheritance
Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.
OMIM:184260
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Monarch
GTR:CN200045
|
345 (73.0%)
|
endocrine-cerebro-osteodysplasia syndrome
|
Brachydactyly
Cleft palate
Cleft upper lip
Micrognathia
Micromelia
Autosomal recessive inheritance
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
OMIM:612651
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Monarch
KEGG:H00972
GTR:C2675227
GTR:C4509819
|
346 (72.9%)
|
hyperphosphatasia with intellectual disability syndrome 6
|
Limb undergrowth
Long palpebral fissure
Shortening of all distal phalanges of the fingers
Wide mouth
Autosomal recessive inheritance
Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.
OMIM:616809
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Monarch
GTR:C4225201
|
347 (72.9%)
|
Pallister-hall syndrome
|
Cleft upper lip
Mesomelia
Microglossia
Short 4th metacarpal
Y-shaped metacarpals
Autosomal dominant inheritance
Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.
OMIM:146510
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Monarch
KEGG:H00502
Gene Reviews
GTR:C0265220
|
348 (72.9%)
|
Acrootoocular syndrome
|
Epicanthus
Micrognathia
Narrow palate
Short metacarpal
Autosomal recessive inheritance
Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.
OMIM:264475
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Monarch
GTR:C1849661
|
348 (72.9%)
|
C syndrome
|
Epicanthus
Micrognathia
Short metacarpal
Wide mouth
Autosomal dominant inheritance
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
OMIM:211750
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Monarch
KEGG:H01008
GTR:C0796095
|
350 (72.9%)
|
Ellis-van Creveld syndrome
|
Cleft upper lip
Postaxial hand polydactyly
Short long bone
Short ribs
Autosomal recessive inheritance
Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
OMIM:225500
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Monarch
KEGG:H00503
GTR:C0013903
GTR:CN239258
|
351 (72.9%)
|
intellectual disability, autosomal dominant 34
|
Epicanthus
Short foot
Smooth philtrum
Autosomal dominant inheritance
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.
OMIM:616351
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Monarch
|
352 (72.8%)
|
hypoparathyroidism-retardation-dysmorphism syndrome
|
Bifid uvula
Long philtrum
Micrognathia
Short palm
Autosomal recessive inheritance
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.
OMIM:241410
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Monarch
KEGG:H00622
GTR:C1855840
|
352 (72.8%)
|
Cold-induced sweating syndrome 1
|
Long philtrum
Micrognathia
Narrow mouth
Short palm
Autosomal recessive inheritance
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
OMIM:272430
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Monarch
KEGG:H00935
Gene Reviews
|
352 (72.8%)
|
motor developmental delay due to 14q32.2 paternally expressed gene defect
|
Cleft palate
Micrognathia
Short philtrum
Small hand
Autosomal dominant inheritance
Sporadic
A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.
OMIM:616222
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Monarch
GTR:C4015558
|
355 (72.8%)
|
cocoon syndrome
|
Mandibular aplasia
Protruding tongue
Upper limb undergrowth
Autosomal recessive inheritance
Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.
OMIM:613630
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Monarch
KEGG:H00882
GTR:C3150891
|
356 (72.8%)
|
Phelan-McDermid syndrome
|
Epicanthus
Large hands
Long philtrum
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.
OMIM:606232
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Monarch
KEGG:H01238
Gene Reviews
GTR:C1853490
|
357 (72.8%)
|
metatropic dysplasia
|
Narrow chest
Relatively short spine
Short finger
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.
OMIM:156530
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Monarch
KEGG:H02184
Gene Reviews
|
358 (72.7%)
|
Desbuquois dysplasia 1
|
Microretrognathia
Narrow mouth
Short 1st metacarpal
Short metatarsal
Autosomal recessive inheritance
Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.
OMIM:251450
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Monarch
KEGG:H00494
GTR:C4012146
|
359 (72.7%)
|
velo-facial-skeletal syndrome
|
Epicanthus
High, narrow palate
Short foot
Short palm
Short thumb
Autosomal dominant inheritance
Velo-facial-skeletal syndrome is 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.
OMIM:600736
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Monarch
GTR:C1833380
|
359 (72.7%)
|
alopecia - contractures - dwarfism - intellectual disability syndrome
|
Carious teeth
Short middle phalanx of the 5th finger
Telecanthus
Autosomal recessive inheritance
Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.
OMIM:203550
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Monarch
GTR:C0795895
|
359 (72.7%)
|
intellectual disability, X-linked 91
|
Epicanthus
High palate
Short 5th finger
Short foot
X-linked inheritance
X-linked dominant inheritance
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.
OMIM:300577
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Monarch
GTR:C1845142
|
359 (72.7%)
|
Down syndrome
|
Epicanthus
Macroglossia
Short middle phalanx of the 5th finger
Sporadic
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
OMIM:190685
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Monarch
KEGG:H01552
GTR:C0013080
|
363 (72.6%)
|
dyssegmental dysplasia, Rolland-Desbuquois type
|
Adducted thumb
Cleft palate
Micrognathia
Shallow orbits
Short long bone
Autosomal recessive inheritance
OMIM:224400
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Monarch
GTR:C0432209
|
364 (72.6%)
|
cerebrofaciothoracic dysplasia
|
Cleft upper lip
Epicanthus
Micrognathia
Postaxial hand polydactyly
Autosomal recessive inheritance
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.
OMIM:213980
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Monarch
|
365 (72.6%)
|
frontofacionasal dysplasia
|
Brachycephaly
Cleft upper lip
Eyelid coloboma
Malar flattening
Autosomal recessive inheritance
Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).
OMIM:229400
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Monarch
GTR:C2931720
|
366 (72.6%)
|
cranioectodermal dysplasia 3
|
Brachydactyly
Everted lower lip vermilion
Micrognathia
Telecanthus
Autosomal recessive inheritance
Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.
OMIM:614099
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Monarch
Gene Reviews
GTR:C3279807
|
366 (72.6%)
|
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
|
Brachydactyly
Downslanted palpebral fissures
Micrognathia
Thick vermilion border
Autosomal dominant inheritance
OMIM:617061
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Monarch
Gene Reviews
GTR:C4310740
|
368 (72.5%)
|
Elsahy-Waters syndrome
|
Everted lower lip vermilion
Malar flattening
Mandibular prognathia
Upper eyelid coloboma
An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.
OMIM:603463
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Monarch
GTR:C1863870
|
369 (72.5%)
|
syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
|
Short foot
Short metacarpal
Short thumb
Syndactyly
Autosomal dominant inheritance
OMIM:615170
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Monarch
GTR:C3554611
|
369 (72.5%)
|
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
|
Brachydactyly
Short 5th metacarpal
Short finger
Short toe
Autosomal dominant inheritance
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.
OMIM:604381
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Monarch
GTR:C1858420
|
369 (72.5%)
|
brachydactyly type A1B
|
Short 5th metacarpal
Short middle phalanx of finger
Short stature
Autosomal dominant inheritance
Heterogeneous
OMIM:607004
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Monarch
GTR:C1846949
|
369 (72.5%)
|
skeletal dysplasia with delayed epiphyseal and carpal bone ossification
|
Broad middle phalanx of finger
Delayed ossification of carpal bones
Short middle phalanx of finger
Autosomal dominant inheritance
OMIM:182255
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Monarch
GTR:C1866939
|
369 (72.5%)
|
syndactyly type 5
|
Absent distal interphalangeal creases
Fused fourth and fifth metacarpals
Short distal phalanx of finger
Autosomal dominant inheritance
Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.
OMIM:186300
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Monarch
|
369 (72.5%)
|
acropectorovertebral dysplasia
|
Abnormal thorax morphology
Broad thumb
Short thumb
Autosomal dominant inheritance
Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).
OMIM:102510
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Monarch
GTR:C1863307
|
369 (72.5%)
|
Sillence syndrome
|
Short 1st metacarpal
Tall stature
Autosomal dominant inheritance
Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.
OMIM:113450
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Monarch
GTR:C1862092
|
369 (72.5%)
|
synpolydactyly type 1
|
6 metacarpals
Short middle phalanx of the 5th finger
Y-shaped metacarpals
Autosomal dominant inheritance
Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.
OMIM:186000
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Monarch
KEGG:H00459
GTR:CN203278
|
369 (72.5%)
|
tarsal-carpal coalition syndrome
|
Brachydactyly
Short 1st metacarpal
Short finger
Autosomal dominant inheritance
Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.
OMIM:186570
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Monarch
KEGG:H00778
GTR:C1861305
|
369 (72.5%)
|
brachydactyly type B2
|
Sensorineural hearing impairment
Short 1st metacarpal
Short distal phalanx of finger
Autosomal dominant inheritance
Brachydactyly type B2 is 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.
OMIM:611377
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Monarch
GTR:C1969652
|
369 (72.5%)
|
Schmid metaphyseal chondrodysplasia
|
Broad middle phalanx of finger
Platyspondyly
Short middle phalanx of finger
Autosomal dominant inheritance
Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
OMIM:156500
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Monarch
KEGG:H00479
|
369 (72.5%)
|
brachydactyly type A1A
|
Absent distal interphalangeal creases
Short palm
Short proximal phalanx of thumb
Slender metacarpals
Autosomal dominant inheritance
Heterogeneous
OMIM:112500
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Monarch
KEGG:H00482
|
369 (72.5%)
|
brachydactyly type C
|
Brachydactyly
Short 1st metacarpal
Short middle phalanx of finger
Autosomal dominant inheritance
OMIM:113100
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Monarch
GTR:C1862103
|
382 (72.4%)
|
autosomal dominant Aarskog syndrome
|
Brachydactyly
Cleft upper lip
Downslanted palpebral fissures
Hypoplasia of the maxilla
Single transverse palmar crease
X-linked inheritance
Sex-limited autosomal dominant
OMIM:100050
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Monarch
|
383 (72.4%)
|
otospondylomegaepiphyseal dysplasia, autosomal recessive
|
Cleft palate
Micrognathia
Short long bone
Short palm
Autosomal recessive inheritance
OMIM:215150
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Monarch
|
384 (72.4%)
|
oculoosteocutaneous syndrome
|
Anodontia
Downslanted palpebral fissures
Hypoplasia of the maxilla
Short metacarpal
Short metatarsal
Autosomal recessive inheritance
Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.
OMIM:211370
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Monarch
GTR:C1859385
|
385 (72.3%)
|
amelia cleft lip palate hydrocephalus iris coloboma
|
Bilateral cleft lip and palate
Facial cleft
Foot oligodactyly
Short femur
Sporadic
OMIM:601357
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Monarch
GTR:C1832434
|
386 (72.3%)
|
Stüve-Wiedemann syndrome
|
Micrognathia
Pursed lips
Short palpebral fissure
Short tibia
Autosomal recessive inheritance
Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
OMIM:601559
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Monarch
KEGG:H00462
GTR:C0432240
GTR:C0796176
|
387 (72.3%)
|
MEGF8-related Carpenter syndrome
|
Aplasia of the middle phalanx of the hand
Broad thumb
Epicanthus
Narrow palate
Retrognathia
Autosomal recessive inheritance
Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.
OMIM:614976
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Monarch
GTR:C3554247
|
388 (72.2%)
|
hypoglossia-hypodactyly syndrome
|
Adactyly
Epicanthus
Micrognathia
Narrow mouth
Autosomal dominant inheritance
Sporadic
Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.
OMIM:103300
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Monarch
|
389 (72.2%)
|
brachydactyly type B1
|
Delayed eruption of permanent teeth
Hypoplastic sacrum
Short long bone
Short middle phalanx of finger
Autosomal dominant inheritance
Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.
OMIM:113000
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Monarch
|
389 (72.2%)
|
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
|
Abnormality of the dentition
Hypoplastic sacrum
Short distal phalanx of finger
Short metatarsal
Autosomal recessive inheritance
OMIM:614813
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Monarch
GTR:C3542022
|
391 (72.2%)
|
oculocerebrocutaneous syndrome
|
Cleft palate
Congenital hip dislocation
Dandy-Walker malformation
Eyelid coloboma
Sporadic
Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.
OMIM:164180
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Monarch
GTR:C0796092
|
392 (72.2%)
|
atelosteogenesis type III
|
Cleft palate
Hitchhiker thumb
Micrognathia
Radial bowing
Autosomal dominant inheritance
Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
OMIM:108721
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Monarch
Gene Reviews
|
393 (72.2%)
|
autosomal dominant popliteal pterygium syndrome
|
Ankyloblepharon
Cleft upper lip
Cutaneous finger syndactyly
Fibrous syngnathia
Autosomal dominant inheritance
Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
OMIM:119500
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Monarch
KEGG:H00611
Gene Reviews
GTR:CN199177
|
393 (72.2%)
|
Baraitser-Winter syndrome 1
|
Cleft upper lip
Duplication of phalanx of hallux
Epicanthus
Retrognathia
Autosomal dominant inheritance
Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.
OMIM:243310
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Monarch
KEGG:H02023
Gene Reviews
GTR:C1837819
GTR:C1853623
|
395 (72.1%)
|
short-rib thoracic dysplasia 20 with polydactyly
|
Cleft lip
Cleft palate
Fibular hypoplasia
Micrognathia
Autosomal recessive inheritance
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).
OMIM:617925
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Monarch
GTR:CN902090
|
396 (72.1%)
|
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
|
2-3 toe syndactyly
Blepharitis
Cleft upper lip
Hypoplasia of the maxilla
Autosomal dominant inheritance
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.
OMIM:106260
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Monarch
KEGG:H00752
Gene Reviews
|
397 (72.1%)
|
intellectual disability, X-linked 61
|
Brachydactyly
Broad thumb
Downslanted palpebral fissures
Micrognathia
Narrow mouth
X-linked inheritance
X-linked recessive inheritance
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene.
OMIM:300978
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Monarch
GTR:C4283894
|
398 (72.1%)
|
holoprosencephaly-postaxial polydactyly syndrome
|
11 pairs of ribs
Median cleft lip and palate
Postaxial hand polydactyly
Upslanted palpebral fissure
Autosomal recessive inheritance
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.
OMIM:264480
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Monarch
GTR:C1849649
|
399 (72.1%)
|
megalocornea-intellectual disability syndrome
|
Arachnodactyly
Epicanthus
Genu valgum
Long philtrum
Micrognathia
Autosomal recessive inheritance
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
OMIM:249310
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Monarch
GTR:C0796086
|
399 (72.1%)
|
fetal akinesia deformation sequence 1
|
Camptodactyly of finger
Long philtrum
Micrognathia
Slender long bone
Telecanthus
Autosomal recessive inheritance
Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.
OMIM:208150
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Monarch
KEGG:H00987
|