200
(76.5%)

craniosynostosis-intellectual disability syndrome of 51N and Gettig

Epicanthus Hand clenching Micrognathia Smooth philtrum

Autosomal recessive inheritance

202
(76.4%)

nail-patella syndrome

Cleft palate Cleft upper lip Elongated radius Hypoplasia of first ribs Patellar hypoplasia

Autosomal dominant inheritance

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

203
(76.4%)

Gillessen-Kaesbach-Nishimura syndrome

Epicanthus Micrognathia Short long bone Smooth philtrum Ulnar deviation of the hand

Autosomal recessive inheritance

204
(76.3%)

autosomal recessive multiple pterygium syndrome

Dislocated radial head Epicanthus Long philtrum Micrognathia Patellar aplasia

Autosomal recessive inheritance

A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.

205
(76.3%)

Coffin-Lowry syndrome

Downslanted palpebral fissures Everted lower lip vermilion Mandibular prognathia Short metacarpal

X-linked dominant inheritance Sporadic

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

206
(76.3%)

Meier-Gorlin syndrome 1

Long eyelashes Micrognathia Short palm Thick lower lip vermilion

Autosomal recessive inheritance Heterogeneous

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.

207
(76.2%)

microphthalmia with brain and digit anomalies

Cleft palate Micrognathia Orbital cyst Short middle phalanx of finger

Autosomal dominant inheritance

Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

208
(76.2%)

pseudoachondroplasia

Hypoplasia of the odontoid process Sensory neuropathy Short distal phalanx of finger Ulnar metaphyseal irregularity

Autosomal dominant inheritance

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.

209
(76.2%)

temtamy preaxial brachydactyly syndrome

Deep philtrum Radioulnar synostosis Short metacarpal Synophrys

Autosomal recessive inheritance

An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.

210
(76.2%)

camptodactyly syndrome, Guadalajara type 2

Long philtrum Micrognathia Short middle phalanx of finger

Autosomal recessive inheritance

Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.

211
(76.2%)

cat-eye syndrome

Absent radius Cleft palate Downslanted palpebral fissures Micrognathia

Autosomal dominant inheritance

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.

212
(76.2%)

metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

Hypoplasia of the maxilla Short 5th metacarpal Short middle phalanx of the 5th finger Short philtrum Thin vermilion border

Autosomal dominant inheritance

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.

213
(76.1%)

midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis

Broad distal phalanx of finger Clinodactyly of the 5th finger Downslanted palpebral fissures Micrognathia Thin upper lip vermilion

X-linked recessive inheritance

214
(76.1%)

odonto-tricho-ungual-digito-palmar syndrome

Mandibular prognathia Short distal phalanx of finger Short first metatarsal Thick vermilion border

Autosomal dominant inheritance

Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.

215
(76.1%)

ventriculomegaly with defects of the radius and kidney

Absent radius Absent thumb Forearm undergrowth Ureteral duplication

Autosomal recessive inheritance

216
(76.1%)

campomelic dysplasia

Blepharophimosis Cleft palate Fibular hypoplasia Micrognathia Shortening of all phalanges of the toes

Autosomal dominant inheritance

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

217
(76.0%)

van Bogaert-Hozay syndrome

Distal ulnar hypoplasia Micrognathia Misalignment of teeth

Autosomal recessive inheritance

218
(75.9%)

Wiedemann-Rautenstrauch syndrome

Downslanted palpebral fissures Large hands Micrognathia Narrow mouth Short femur

Autosomal recessive inheritance

Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.

219
(75.9%)

Juberg-Hayward syndrome

Abnormality of the radial head Aplasia/Hypoplasia of the thumb Cleft upper lip Highly arched eyebrow

Autosomal recessive inheritance

Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.

220
(75.9%)

intellectual disability, autosomal dominant 1

Micrognathia Small hand Thick eyebrow Thin upper lip vermilion

Autosomal dominant inheritance

An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.

221
(75.9%)

brachymesomelia-renal syndrome

Blepharophimosis Hypoplasia of the radius Micrognathia

Sporadic

222
(75.9%)

progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

Blepharophimosis Long philtrum Mandibular prognathia Small hand

Autosomal recessive inheritance

222
(75.9%)

Prader-Willi syndrome due to point mutation

Abnormality of the philtrum Retrognathia Short palpebral fissure Small hand

Autosomal dominant inheritance

222
(75.9%)

Hennekam lymphangiectasia-lymphedema syndrome 1

Epicanthus Retrognathia Short palm Smooth philtrum

Autosomal recessive inheritance

Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.

225
(75.8%)

Goldberg-Shprintzen megacolon syndrome

Downslanted palpebral fissures Hypoplasia of the maxilla Short philtrum Small hand

Autosomal recessive inheritance

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

225
(75.8%)

subaortic stenosis-short stature syndrome

Epicanthus Hypoplasia of the maxilla Short palm Short upper lip

Autosomal recessive inheritance

227
(75.8%)

Melnick-Needles syndrome

Cleft palate Micrognathia Short distal phalanx of finger Short humerus

X-linked dominant inheritance

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

228
(75.7%)

Kabuki syndrome 1

Cleft palate Long palpebral fissure Short 5th finger

Autosomal dominant inheritance

229
(75.7%)

temtamy syndrome

Brachydactyly Downslanted palpebral fissures Long philtrum Micrognathia Short 2nd toe

Autosomal recessive inheritance

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

230
(75.7%)

Ehlers-Danlos syndrome, dermatosparaxis type

Epicanthus Everted lower lip vermilion Micrognathia Micromelia Short toe

Autosomal recessive inheritance

A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.

231
(75.6%)

constriction rings syndrome

Cleft upper lip Encephalocele Eyelid coloboma Hand polydactyly

Sporadic

Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.

232
(75.5%)

rapadilino syndrome

Absent thumb Aplasia/Hypoplasia of the patella Aplasia/Hypoplasia of the radius Blepharophimosis Cleft palate

Autosomal recessive inheritance

RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

233
(75.5%)

cranioectodermal dysplasia 4

Broad distal phalanx of finger Short distal phalanx of finger Smooth philtrum Thin vermilion border

Autosomal recessive inheritance

234
(75.4%)

neuropathy, congenital hypomyelinating, 3

Epicanthus Hand clenching Micrognathia Thick vermilion border

Autosomal recessive inheritance

235
(75.3%)

metaphyseal acroscyphodysplasia

Epicanthus Hypoplasia of the odontoid process Malar flattening Short finger Short humerus

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.

236
(75.3%)

diastrophic dysplasia

Cleft palate Hypoplastic cervical vertebrae Short finger Short long bone

Autosomal recessive inheritance

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

237
(75.3%)

cerebrooculofacioskeletal syndrome 4

Adducted thumb Blepharophimosis Dislocated radial head Micrognathia Short philtrum

Autosomal recessive inheritance

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.

237
(75.3%)

acroosteolysis dominant type

Dislocated radial head Epicanthus Long philtrum Micrognathia Osteolytic defects of the phalanges of the hand

Autosomal dominant inheritance

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

239
(75.2%)

GMS syndrome

Epicanthus Short palm Short philtrum

Autosomal dominant inheritance

GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.

239
(75.2%)

hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes

Small hand Thin upper lip vermilion Upslanted palpebral fissure

Autosomal recessive inheritance

239
(75.2%)

hypertelorism, Teebi type

Downslanted palpebral fissures Long philtrum Small hand

Autosomal dominant inheritance

Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes.

239
(75.2%)

intellectual developmental disorder with dysmorphic facies and behavioral abnormalities

Downslanted palpebral fissures Long philtrum Short foot Small hand

Autosomal dominant inheritance

239
(75.2%)

Al Kaissi syndrome

Epicanthus Small hand Thin upper lip vermilion

Autosomal recessive inheritance

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).

239
(75.2%)

ZTTK syndrome

Downslanted palpebral fissures Short foot Small hand Thin upper lip vermilion

Autosomal dominant inheritance

239
(75.2%)

intellectual disability, X-linked 99, syndromic, female-restricted

Short foot Short palpebral fissure Small hand Smooth philtrum

X-linked dominant inheritance

Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.

239
(75.2%)

Prader-Willi syndrome

Short foot Short palm Thin upper lip vermilion Upslanted palpebral fissure

Autosomal dominant inheritance Sporadic

Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.

247
(75.1%)

combined immunodeficiency with faciooculoskeletal anomalies

Lacrimal duct stenosis Short metacarpal Short metatarsal Thin lower lip vermilion

Autosomal recessive inheritance

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

248
(75.1%)

short-rib thoracic dysplasia 16 with or without polydactyly

Carious teeth Limb undergrowth Short distal phalanx of finger Short metatarsal Telecanthus

Autosomal recessive inheritance

249
(75.0%)

spondylometaphyseal dysplasia, Schmidt type

Carpal bone hypoplasia Hypoplasia of proximal radius Myopia

Autosomal dominant inheritance

Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.

250
(75.0%)

3MC syndrome 2

Cleft upper lip Downslanted palpebral fissures Prominence of the premaxilla Radioulnar synostosis

Autosomal recessive inheritance

Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.

251
(75.0%)

Mobius syndrome

Abnormality of the dentition Aplasia/Hypoplasia involving the metacarpal bones Epicanthus Hand clenching Micrognathia

Autosomal dominant inheritance Sporadic

Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

252
(74.9%)

Smith-Magenis syndrome

Abnormality of the forearm Everted upper lip vermilion Mandibular prognathia Short palm Synophrys

Autosomal dominant inheritance Sporadic

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

253
(74.9%)

paternal uniparental disomy of chromosome 14

Blepharophimosis Limb undergrowth Long fingers Long philtrum Micrognathia

Autosomal dominant inheritance Sporadic

254
(74.9%)

Pfeiffer syndrome

Broad thumb Downslanted palpebral fissures High palate Mandibular prognathia Shortening of all middle phalanges of the fingers

Autosomal dominant inheritance

Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.

255
(74.8%)

kapur-Toriello syndrome

Cleft palate Cleft upper lip Short thumb

Autosomal recessive inheritance

Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.

256
(74.8%)

microcephalic primordial dwarfism, Toriello type

Downslanted palpebral fissures Hypoplasia of dental enamel Micrognathia Short middle phalanx of finger Short palm

Autosomal recessive inheritance

Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.

257
(74.8%)

metaphyseal chondrodysplasia-retinitis pigmentosa syndrome

Downslanted palpebral fissures Micrognathia Short distal phalanx of finger Short metacarpal Underdeveloped nasal alae

Autosomal recessive inheritance

258
(74.8%)

cleidocranial dysplasia

Cleft palate Long second metacarpal Micrognathia Short middle phalanx of the 5th finger

Autosomal dominant inheritance

Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.

259
(74.7%)

absent tibia-polydactyly-arachnoid cyst syndrome

Aplasia/Hypoplasia of the tibia Cleft upper lip Radial bowing

Autosomal recessive inheritance

Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.

260
(74.7%)

mesomelia-synostoses syndrome

Absent uvula Downslanted palpebral fissures Microretrognathia Progressive forearm bowing Short foot

Autosomal dominant inheritance

Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.

261
(74.7%)

Dyggve-Melchior-Clausen syndrome, X-linked

Carpal bone hypoplasia Coarse facial features Distal ulnar hypoplasia Hypoplastic sacrum

X-linked recessive inheritance

X-linked form of Dyggve-Melchior-Clausen disease.

262
(74.7%)

intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies

Broad thumb Downslanted palpebral fissures Retrognathia Tapered finger Thin upper lip vermilion

Autosomal recessive inheritance

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).

263
(74.7%)

Feingold syndrome type 1

Epicanthus Everted lower lip vermilion Micrognathia Short toe

Autosomal dominant inheritance

Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.

264
(74.7%)

short-rib thoracic dysplasia 6 with or without polydactyly

Brachydactyly Disproportionate shortening of the tibia Median cleft lip Short ribs

Autosomal recessive inheritance Digenic inheritanec

A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.

265
(74.7%)

opsismodysplasia

Hypoplastic vertebral bodies Long philtrum Short long bone Short palm

Autosomal recessive inheritance

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

265
(74.7%)

fibrochondrogenesis 1

Long philtrum Narrow mouth Short long bone Short palm Short ribs

Autosomal recessive inheritance

Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.

267
(74.6%)

short stature-optic atrophy-Pelger-HuC+t anomaly syndrome

Brachydactyly Epicanthus Long philtrum Micromelia

Autosomal recessive inheritance

268
(74.6%)

Leri-Weill dyschondrosteosis

High palate Hypoplasia of the ulna Short 4th metacarpal Short toe

Autosomal dominant inheritance

LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.

269
(74.5%)

skin creases, congenital symmetric circumferential, 2

Cleft palate Epicanthus Micrognathia Short palm

Autosomal dominant inheritance

269
(74.5%)

Toriello-Carey syndrome

Cleft palate Micrognathia Short palm Telecanthus

Autosomal recessive inheritance

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

271
(74.5%)

microcephaly, short stature, and limb abnormalities

Convex nasal ridge Hypoplasia of the radius Short metacarpal Upslanted palpebral fissure

Autosomal recessive inheritance

272
(74.4%)

microcephalic osteodysplastic primordial dwarfism type I

Large hands Micrognathia Short femur Sloping forehead Sparse eyelashes

Autosomal recessive inheritance

A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.

273
(74.4%)

orofaciodigital syndrome I

Brachydactyly Epicanthus Median cleft lip Microretrognathia

X-linked dominant inheritance

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

273
(74.4%)

acrocallosal syndrome

Brachydactyly Cleft upper lip Epicanthus Microretrognathia

Autosomal recessive inheritance Heterogeneous

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

275
(74.4%)

Pelger-Huet anomaly

Abnormality of the dentition Median cleft palate Short 3rd metacarpal Upper limb undergrowth

Autosomal dominant inheritance

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.

276
(74.4%)

frontorhiny

Brachydactyly Epicanthus Hypoplastic frontal sinuses Median cleft lip

Autosomal recessive inheritance Sporadic

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

277
(74.4%)

Larsen-like syndrome, B3GAT3 type

Cleft palate Downslanted palpebral fissures Microretrognathia Radioulnar synostosis Spatulate thumbs

Autosomal recessive inheritance

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

278
(74.3%)

postaxial polydactyly-dental and vertebral anomalies syndrome

Bifid uvula Epicanthus Hypoplastic vertebral bodies Short middle phalanx of finger

Autosomal recessive inheritance

Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.

278
(74.3%)

Wolcott-Rallison syndrome

Carpal bone hypoplasia High palate Hypoplasia of the odontoid process Shortening of all middle phalanges of the fingers Upslanted palpebral fissure

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.

280
(74.2%)

Muenke syndrome

Broad thumb Downslanted palpebral fissures High palate Short middle phalanx of finger Short middle phalanx of toe

Autosomal dominant inheritance

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

281
(74.2%)

Schinzel-Giedion syndrome

Macroglossia Shallow orbits Short 1st metacarpal Short distal phalanx of finger Short sternum

Autosomal dominant inheritance

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.

282
(74.1%)

intellectual disability-balding-patella luxation-acromicria syndrome

Epicanthus Everted lower lip vermilion Short foot Small hand

X-linked recessive inheritance

Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.

282
(74.1%)

Atkin-Flaitz syndrome

Downslanted palpebral fissures Short palm Thick lower lip vermilion

X-linked recessive inheritance X-linked dominant inheritance

Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.

282
(74.1%)

spondyloepimetaphyseal dysplasia, Genevieve type

Carpal bone hypoplasia Epicanthus Thick lower lip vermilion

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

285
(74.1%)

histidinuria due to a renal tubular defect

Short middle phalanx of finger Thin upper lip vermilion

Autosomal recessive inheritance

285
(74.1%)

Thai symphalangism syndrome

Broad philtrum High palate Short finger Short toe

Sporadic

285
(74.1%)

8q24.3 microdeletion syndrome

Short 5th finger Thin upper lip vermilion

Autosomal dominant inheritance

285
(74.1%)

3M syndrome 2

High palate Long philtrum Short 5th finger

Autosomal recessive inheritance

Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.

285
(74.1%)

Keutel syndrome

Deep philtrum Malar flattening Short thumb

Autosomal recessive inheritance

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

285
(74.1%)

DOORS syndrome

High palate Long philtrum Short distal phalanx of finger

Autosomal recessive inheritance

DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.

291
(74.0%)

mesomelic dwarfism of hypoplastic tibia and radius type

Hypoplasia of the radius

Autosomal dominant inheritance

291
(74.0%)

dyschondrosteosis-nephritis syndrome

Nephritis Short forearm Short tibia

Autosomal dominant inheritance

Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.

293
(74.0%)

Meier-Gorlin syndrome 3

Aplasia/Hypoplasia of the patella Downslanted palpebral fissures Microretrognathia Thick lower lip vermilion

Autosomal recessive inheritance

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.

294
(74.0%)

multiple synostoses syndrome 1

Short humerus Short sternum Thick upper lip vermilion

Autosomal dominant inheritance

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.

294
(74.0%)

occipital horn syndrome

High palate Long philtrum Short clavicles Short humerus

X-linked recessive inheritance

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

296
(74.0%)

Williams syndrome

Clinodactyly of the 5th finger Epicanthus Long philtrum Malar flattening Radioulnar synostosis

Autosomal dominant inheritance

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

297
(73.9%)

thrombocytopenia-absent radius syndrome

Aplasia/Hypoplasia of the ulna Carpal bone hypoplasia Malar flattening Micrognathia

Autosomal recessive inheritance

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

298
(73.9%)

lethal osteosclerotic bone dysplasia

Brachydactyly Cleft palate Downslanted palpebral fissures Micrognathia Micromelia

Autosomal recessive inheritance

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

299
(73.9%)

ulnar/fibula ray defect-brachydactyly syndrome

Fibular hypoplasia Malar flattening Postaxial oligodactyly Unilateral ulnar hypoplasia

Autosomal dominant inheritance

Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

300
(73.9%)

X-linked intellectual disability-hypotonic face syndrome

Brachydactyly Epicanthus Genu valgum Micrognathia Short upper lip

X-linked recessive inheritance

Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.