181
(76.2%)

Distal monosomy 17q

Abnormality of the philtrum Aplasia/Hypoplasia of the thumb Micromelia Upslanted palpebral fissure

A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.

182
(76.2%)

Aicardi syndrome

Cleft upper lip Missing ribs Small hand Sparse lateral eyebrow

X-linked dominant inheritance

A rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.

183
(76.1%)

2q32q33 microdeletion syndrome

Arachnodactyly Broad thumb Downslanted palpebral fissures Long philtrum Micrognathia

Autosomal dominant inheritance

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

183
(76.1%)

3p25.3 microdeletion syndrome

Broad thumb Epicanthus Micrognathia Tapered finger Thin upper lip vermilion

3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.

185
(76.1%)

Antley-Bixler syndrome

Downslanted palpebral fissures Long philtrum Proximal femoral focal deficiency Radioulnar synostosis

A very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

186
(76.1%)

Tetrasomy 12p

Micromelia Short femur Telecanthus Thick upper lip vermilion

Somatic mosaicism

Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.

187
(76.0%)

Multiple osteochondromas

Abnormality of the dentition Hypoplasia of the ulna Micrognathia

Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.

188
(76.0%)

Crossed polysyndactyly

Abnormality of the philtrum Aplasia/Hypoplasia of the thumb Upslanted palpebral fissure

Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.

189
(75.9%)

Sheldon-Hall syndrome

Aplasia/Hypoplasia of the radius Epicanthus High palate Micrognathia Overlapping fingers

Autosomal dominant inheritance

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

190
(75.9%)

Wilson-Turner syndrome

Micrognathia Small hand Thick eyebrow Thin upper lip vermilion

X-linked recessive inheritance X-linked dominant inheritance

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

191
(75.9%)

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

Downslanted palpebral fissures Long philtrum Retrognathia Short palm

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).

192
(75.8%)

Down syndrome

Brachydactyly Epicanthus Short femur Thick lower lip vermilion

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.

193
(75.7%)

Urban-Rogers-Meyer syndrome

Abnormality of the philtrum Brachydactyly Epicanthus Micrognathia Short foot

Autosomal recessive inheritance

This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.

193
(75.7%)

Temtamy syndrome

Brachydactyly Long philtrum Micrognathia Short toe Telecanthus

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.

193
(75.7%)

Autosomal recessive faciodigitogenital syndrome

Brachydactyly Long philtrum Micrognathia Short foot Telecanthus

Autosomal recessive inheritance

A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.

193
(75.7%)

Tetrasomy 5p

Long philtrum Micrognathia Short hallux Upslanted palpebral fissure

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).

197
(75.7%)

Trisomy 12p

Epicanthus Everted lower lip vermilion Genu valgum Large hands Micrognathia

A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.

198
(75.6%)

Kindler syndrome

Cheilitis Ectropion Short 4th metacarpal

Autosomal recessive inheritance

Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

198
(75.6%)

2q37 microdeletion syndrome

Short foot Short metacarpal Short palm Thin vermilion border Upslanted palpebral fissure

Autosomal dominant inheritance

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

200
(75.4%)

4q21 microdeletion syndrome

Long eyelashes Micromelia Short foot Short palm Short philtrum

Sporadic

The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.

201
(75.2%)

1p36 deletion syndrome

11 pairs of ribs Brachydactyly Epicanthus Long philtrum Short foot

Sporadic

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

202
(75.2%)

Ulnar/fibula ray defect-brachydactyly syndrome

Aplasia/Hypoplasia of the ulna Malar flattening Short 5th finger Short foot

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.

203
(75.2%)

CHST3-related skeletal dysplasia

Highly arched eyebrow Long philtrum Rhizomelia Short metacarpal

Autosomal recessive inheritance

CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

204
(75.2%)

Osteogenesis imperfecta

Brachydactyly Median cleft lip Micrognathia Short long bone

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.

205
(75.2%)

Microtriplication 11q24.1

Long eyelashes Short foot Small hand Smooth philtrum

Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.

205
(75.2%)

X-linked intellectual disability, Cabezas type

Epicanthus Short foot Short palm Short philtrum

X-linked recessive inheritance

An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait abnormalities, hypogonadism, truncal obesity, behavioral disturbances and unspecific facial dysmorphism.

205
(75.2%)

Hypertelorism, Teebi type

Downslanted palpebral fissures Long philtrum Short toe 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 (see this term), 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 (see these terms).

205
(75.2%)

19p13.12 microdeletion syndrome

Epicanthus Long philtrum Short palm

19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.

209
(75.1%)

8p23.1 microdeletion syndrome

Broad thumb Epicanthus Micrognathia Tapered finger Thin vermilion border

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

210
(75.1%)

1q21.1 microdeletion syndrome

Broad thumb Epicanthus Long philtrum Short foot

Autosomal dominant inheritance Sporadic

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

211
(75.0%)

CHAND syndrome

Ankyloblepharon Commissural lip pit Short fifth metatarsal

Autosomal recessive inheritance

212
(75.0%)

Autosomal recessive multiple pterygium syndrome

Epicanthus Long philtrum Micrognathia Patellar aplasia

Autosomal recessive inheritance

213
(75.0%)

Madelung deformity

Hypoplasia of the radius Micromelia Nephropathy Short 4th metacarpal

Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.

214
(74.9%)

Spondyloepiphyseal dysplasia, Nishimura type

Epicanthus Hemiatrophy of upper limb Long philtrum Micrognathia Slender finger

Autosomal recessive inheritance

Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.

214
(74.9%)

Distal trisomy 17q

Epicanthus Hand polydactyly Micrognathia Rhizomelia Thin upper lip vermilion

Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.

216
(74.9%)

Schwartz-Jampel syndrome

Blepharophimosis Long philtrum Micrognathia Micromelia

Autosomal recessive inheritance

A rare syndrome characterised by myotonia and osteoarticular abnormalities.

217
(74.9%)

Spondyloepimetaphyseal dysplasia, Irapa type

Micromelia Pectus carinatum Short palm Upper limb undergrowth

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.

218
(74.9%)

Ellis Van Creveld syndrome

Abnormality of the dentition Micromelia Short distal phalanx of finger Short ribs Thin vermilion border

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.

219
(74.9%)

Atypical Werner syndrome

Aplasia/Hypoplasia of the eyebrow Micrognathia Short palm Thin vermilion border

An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

220
(74.8%)

Congenital glaucoma

Entropion Glossoptosis Micrognathia Short finger

A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.

221
(74.8%)

Maxillonasal dysplasia

Broad philtrum Cleft palate Retrognathia Short distal phalanx of finger

Autosomal dominant inheritance Autosomal recessive inheritance Heterogeneous Multifactorial inheritance

Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.

222
(74.7%)

Acrofacial dysostosis, Rodríguez type

Aplasia/Hypoplasia of the ulna Hand oligodactyly Malar flattening Microretrognathia

Autosomal recessive inheritance

A rare 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.

223
(74.7%)

48,XXYY syndrome

Broad jaw Clinodactyly of the 5th finger Epicanthus Radioulnar synostosis Thick lower lip vermilion

A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.

224
(74.7%)

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Arachnodactyly Broad thumb Downslanted palpebral fissures Retrognathia Thin upper lip vermilion

225
(74.7%)

20p12.3 microdeletion syndrome

Broad thumb Epicanthus Hypoplasia of the maxilla Long philtrum

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

226
(74.6%)

Craniofrontonasal dysplasia

Brachydactyly Broad thumb Congenital pseudoarthrosis of the clavicle Downslanted palpebral fissures Oral cleft

X-linked dominant inheritance

Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.

227
(74.6%)

Frank-Ter Haar syndrome

Abnormality of the metacarpal bones Brachydactyly Downslanted palpebral fissures Mandibular prognathia Short philtrum

Autosomal recessive inheritance

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

228
(74.6%)

Intellectual disability-balding-patella luxation-acromicria syndrome

Acromesomelia Epicanthus Short toe Thin upper lip vermilion

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.

229
(74.5%)

Tetrasomy 18p

Epicanthus Large hands Long philtrum Retrognathia

Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.

230
(74.5%)

16p11.2p12.2 microdeletion syndrome

Epicanthus Microretrognathia Oral cleft Short palm

Sporadic

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

231
(74.5%)

Tetraploidy

Cleft palate Micrognathia Radial club hand Short philtrum

Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine groth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.

232
(74.4%)

Microlissencephaly-micromelia syndrome

11 pairs of ribs Adducted thumb Long philtrum Micromelia Palpebral edema

Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.

232
(74.4%)

Wiedemann-Steiner syndrome

Aplasia/Hypoplasia of the ribs Rhizomelia Tapered finger Telecanthus Thin upper lip vermilion

Autosomal dominant inheritance X-linked recessive inheritance

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

234
(74.4%)

Genitopalatocardiac syndrome

Brachydactyly Downslanted palpebral fissures Micrognathia Non-midline cleft lip

Autosomal recessive inheritance

Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.

234
(74.4%)

Trisomy 8q

Brachydactyly Micrognathia Non-midline cleft lip Upslanted palpebral fissure

A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.

234
(74.4%)

Trisomy 9p

Brachydactyly Epicanthus Micrognathia Non-midline cleft lip

Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.

234
(74.4%)

Smith-Magenis syndrome

Brachydactyly Cleft upper lip Micrognathia Telecanthus

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.

234
(74.4%)

Bifid uvula

Brachydactyly Microretrognathia Telecanthus Unilateral cleft lip

Autosomal dominant inheritance

Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.

239
(74.4%)

Oculoauriculovertebral spectrum with radial defects

Aplasia/Hypoplasia of the thumb Non-midline cleft lip Short mandibular rami Wide mouth

Autosomal dominant inheritance

Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.

240
(74.4%)

EEC syndrome

Aplasia/Hypoplasia of the thumb Blepharitis Cleft lip

Autosomal recessive inheritance

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).