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.

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.

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.

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.

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.

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.

307
(73.8%)

Baratela-Scott syndrome

Cleft palate Epicanthus Rhizomelia Short metacarpal

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.

309
(73.7%)

midline malformations, multiple, with limb abnormalities and hypopituitarism

Cleft palate Cleft upper lip Micromelia Overlapping fingers

Autosomal recessive inheritance

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.

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.

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

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.

314
(73.6%)

mandibulofacial dysostosis with mental deficiency

Lower eyelid coloboma Micrognathia Wide mouth

Autosomal recessive inheritance

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.

315
(73.6%)

Okur-Chung neurodevelopmental syndrome

Brachydactyly Epicanthus Micrognathia Thin upper lip vermilion

Autosomal dominant inheritance

315
(73.6%)

intellectual disability, X-linked, syndromic, 35

Brachydactyly Epicanthus Microretrognathia Thin upper lip vermilion

X-linked recessive inheritance

315
(73.6%)

Coffin-Siris syndrome 6

Brachydactyly Epicanthus Micrognathia Short philtrum

Autosomal dominant inheritance

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.

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.

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.

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.

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.

324
(73.6%)

Fraser syndrome 3

Convex nasal ridge Cryptophthalmos Micrognathia Short toe

Autosomal recessive inheritance

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.

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.

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.

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.

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.

329
(73.4%)

short stature with microcephaly and distinctive facies

High forehead Microretrognathia Short distal phalanx of finger Telecanthus

Autosomal recessive inheritance

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.

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.

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.

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.

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.

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.

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.

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.

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.

340
(73.1%)

short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

Downslanted palpebral fissures Micrognathia Narrow mouth Short humerus

Autosomal recessive inheritance

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.

342
(73.1%)

radius, aplasia of, with cleft lip/palate

Absent radius Cleft palate Cleft upper lip

343
(73.1%)

midface hypoplasia, obesity, developmental delay, and neonatal hypotonia

Brachydactyly Epicanthus Malar flattening Thick lower lip vermilion

Autosomal recessive inheritance

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

363
(72.6%)

dyssegmental dysplasia, Rolland-Desbuquois type

Adducted thumb Cleft palate Micrognathia Shallow orbits Short long bone

Autosomal recessive inheritance

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.

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).

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.

366
(72.6%)

micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

Brachydactyly Downslanted palpebral fissures Micrognathia Thick vermilion border

Autosomal dominant inheritance

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.

369
(72.5%)

syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Short foot Short metacarpal Short thumb Syndactyly

Autosomal dominant inheritance

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.

369
(72.5%)

brachydactyly type A1B

Short 5th metacarpal Short middle phalanx of finger Short stature

Autosomal dominant inheritance Heterogeneous

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

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.

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).

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.

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.

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.

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.

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.

369
(72.5%)

brachydactyly type A1A

Absent distal interphalangeal creases Short palm Short proximal phalanx of thumb Slender metacarpals

Autosomal dominant inheritance Heterogeneous

369
(72.5%)

brachydactyly type C

Brachydactyly Short 1st metacarpal Short middle phalanx of finger

Autosomal dominant inheritance

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

383
(72.4%)

otospondylomegaepiphyseal dysplasia, autosomal recessive

Cleft palate Micrognathia Short long bone Short palm

Autosomal recessive inheritance

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.

385
(72.3%)

amelia cleft lip palate hydrocephalus iris coloboma

Bilateral cleft lip and palate Facial cleft Foot oligodactyly Short femur

Sporadic

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.

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.

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.

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.

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

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.