361
(72.1%)

Mosaic trisomy 9

Cleft palate Finger clinodactyly Micrognathia Micromelia Telecanthus

Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.

361
(72.1%)

Marfan syndrome

Arachnodactyly Cleft palate Downslanted palpebral fissures Micrognathia Rhizomelia

Autosomal dominant inheritance

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

363
(72.1%)

Megalocornea-intellectual disability syndrome

Epicanthus Genu varum Micrognathia Short philtrum Tapered finger

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.

363
(72.1%)

Cohen syndrome

Abnormal eyelid morphology Arachnodactyly Genu valgum Micrognathia Short philtrum

Autosomal recessive inheritance

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

365
(72.1%)

Multiple epiphyseal dysplasia, Lowry type

Cleft palate Micrognathia Rhizomelia Upslanted palpebral fissure

Sporadic

Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.

365
(72.1%)

Desmosterolosis

Cleft palate Epicanthus Micrognathia Micromelia

Autosomal recessive inheritance

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

367
(72.0%)

Aymé-Gripp syndrome

Downslanted palpebral fissures Large fontanelles Radioulnar synostosis Tapered finger Thin upper lip vermilion

Autosomal recessive inheritance Sporadic

Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.

368
(72.0%)

Pfeiffer syndrome

Brachydactyly Broad thumb Mandibular prognathia Open mouth Short philtrum

Autosomal dominant inheritance

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

369
(71.9%)

Angelman syndrome

Brachydactyly Mandibular prognathia Unilateral cleft lip Wide mouth

Autosomal dominant inheritance Sporadic

A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.

370
(71.9%)

RIN2 syndrome

Brachydactyly Downslanted palpebral fissures Long philtrum Macrocephaly

Autosomal recessive inheritance

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

371
(71.8%)

Harlequin ichthyosis

Eclabion Ectropion Short foot

Autosomal recessive inheritance

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

371
(71.8%)

Multiple endocrine neoplasia type 2

Abnormal eyelid morphology Patellar aplasia Thick lower lip vermilion

Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms).

373
(71.8%)

Autosomal dominant popliteal pterygium syndrome

Ankyloblepharon Micrognathia Non-midline cleft lip Split hand

Autosomal dominant inheritance

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.

373
(71.8%)

Zlotogora-Ogur syndrome

Cleft upper lip Downslanted palpebral fissures Micrognathia Palmoplantar hyperkeratosis

Autosomal recessive inheritance

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

375
(71.8%)

Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

Clinodactyly of the 5th finger Long philtrum Microretrognathia Telecanthus

Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.

375
(71.8%)

Toluene embryopathy

Epicanthus Micrognathia Smooth philtrum Tapered finger

A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.

375
(71.8%)

17q21.31 microduplication syndrome

Clinodactyly of the 5th finger Epicanthus Micrognathia Short philtrum

The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.

375
(71.8%)

Non-distal trisomy 13q

Abnormal eyelash morphology Long philtrum Micrognathia Postaxial hand polydactyly

Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.

375
(71.8%)

Craniofacial dyssynostosis

Clinodactyly of the 5th finger Epicanthus Micrognathia Short philtrum

Autosomal recessive inheritance Sporadic

Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus.

375
(71.8%)

Flat face-microstomia-ear anomaly syndrome

Camptodactyly of finger Long philtrum Micrognathia Telecanthus

Autosomal dominant inheritance

Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.

375
(71.8%)

Fallot complex-intellectual disability-growth delay syndrome

Clubbing of fingers Downslanted palpebral fissures Micrognathia Thin upper lip vermilion

Autosomal recessive inheritance

Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.

375
(71.8%)

Ring chromosome 10 syndrome

Downslanted palpebral fissures Long philtrum Micrognathia Tapered finger

An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.

375
(71.8%)

Miller-Dieker syndrome

Abnormality of upper lip Clinodactyly of the 5th finger Epicanthus Micrognathia

Autosomal dominant inheritance Contiguous gene syndrome

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

375
(71.8%)

Cardiocranial syndrome, Pfeiffer type

Broad philtrum Downslanted palpebral fissures Micrognathia Slender finger

Autosomal dominant inheritance Autosomal recessive inheritance

Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).

375
(71.8%)

6q25 microdeletion syndrome

Clinodactyly of the 5th finger Epicanthus Long philtrum Micrognathia

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

375
(71.8%)

Global developmental delay-osteopenia-ectodermal defect syndrome

Clinodactyly of the 2nd finger Epicanthus Long philtrum Micrognathia

This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.

375
(71.8%)

Müllerian derivatives-lymphangiectasia-polydactyly syndrome

Downslanted palpebral fissures Micrognathia Postaxial hand polydactyly Thin upper lip vermilion

Autosomal recessive inheritance

Müllerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.

375
(71.8%)

Oculocerebrofacial syndrome, Kaufman type

Abnormality of upper lip Arachnodactyly Epicanthus Micrognathia

Autosomal recessive inheritance

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

375
(71.8%)

Distal monosomy 3p

Epicanthus Long philtrum Micrognathia Postaxial hand polydactyly

Autosomal dominant inheritance

Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.

375
(71.8%)

16q24.3 microdeletion syndrome

Micrognathia Proximal placement of thumb Smooth philtrum Upslanted palpebral fissure

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

375
(71.8%)

Lathosterolosis

Epicanthus Long philtrum Micrognathia Postaxial hand polydactyly

Autosomal recessive inheritance

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

375
(71.8%)

Distal 22q11.2 microduplication syndrome

Epicanthus Micrognathia Smooth philtrum Tapered finger

Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.

375
(71.8%)

Baraitser-Winter cerebrofrontofacial syndrome

Duplication of thumb phalanx Epicanthus Long philtrum Micrognathia

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

375
(71.8%)

Trisomy 17p

Downslanted palpebral fissures Micrognathia Smooth philtrum Tapered finger

Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.

375
(71.8%)

Monosomy 9p

Epicanthus Long philtrum Micrognathia Postaxial hand polydactyly

Autosomal dominant inheritance Sporadic

Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.

375
(71.8%)

FG syndrome type 1

Abnormal thumb morphology Downslanted palpebral fissures Long philtrum Micrognathia

X-linked recessive inheritance

375
(71.8%)

7q11.23 microduplication syndrome

Long eyelashes Long fingers Micrognathia Thin upper lip vermilion

Autosomal dominant inheritance

7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.

375
(71.8%)

22q11.2 deletion syndrome

Epicanthus Hand polydactyly Micrognathia Short philtrum

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

399
(71.7%)

Ossification anomalies-psychomotor developmental delay syndrome

Micrognathia Shallow orbits Short 5th finger Triangular face

Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.

400
(71.7%)

Acrorenal syndrome

Abnormality of the ulna Aplasia/Hypoplasia of the radius Cleft palate Micrognathia

Autosomal recessive inheritance

A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.

401
(71.6%)

Bannayan-Riley-Ruvalcaba syndrome

Broad thumb Long philtrum Micrognathia Narrow palate

Autosomal dominant inheritance

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

402
(71.6%)

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Brachydactyly Cleft palate Glossoptosis Micrognathia Short femur

403
(71.5%)

Lymphedema-distichiasis syndrome

Cleft upper lip Ectropion Micrognathia

Autosomal dominant inheritance

Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.

403
(71.5%)

Emanuel syndrome

Micrognathia Submucous cleft lip Upslanted palpebral fissure

Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.

405
(71.4%)

Monosomy 5p

Epicanthus High palate Microretrognathia Small hand

Sporadic

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

405
(71.4%)

Hallermann-Streiff syndrome

Abnormality of the tongue Micrognathia Small hand Telecanthus

Sporadic

Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.

405
(71.4%)

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Epicanthus High palate Micrognathia Small hand

Autosomal dominant inheritance

A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.

408
(71.4%)

Atelosteogenesis type III

Hand clenching High palate Micrognathia Short tubular bones of the hand

Autosomal dominant inheritance

A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

409
(71.4%)

Velo-facial-skeletal syndrome

Abnormality of the dentition Epicanthus Large hands Short palm

Autosomal dominant inheritance

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.

409
(71.4%)

Autosomal recessive spastic paraplegia type 20

Abnormal hand morphology Epicanthus Overbite Small hand

Autosomal recessive inheritance

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

411
(71.4%)

Eiken syndrome

Absence of the sacrum Broad palm Fibular hypoplasia Short palm

Autosomal recessive inheritance

A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.

412
(71.3%)

49,XYYYY syndrome

Coarse facial features Micrognathia Radioulnar synostosis Short 5th finger

49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.

413
(71.3%)

Recombinant 8 syndrome

Abnormality of the dentition Cleft upper lip Micrognathia Patellar aplasia

Autosomal dominant inheritance

Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.

414
(71.3%)

Imperforate oropharynx-costovertebral anomalies syndrome

Abnormality of the philtrum Arachnodactyly Epicanthus Missing ribs

Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.

415
(71.2%)

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

Short distal phalanx of finger Telecanthus

Autosomal dominant inheritance

Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.

415
(71.2%)

Dahlberg-Borer-Newcomer syndrome

Short distal phalanx of finger Telecanthus Wide nasal bridge

Autosomal recessive inheritance X-linked recessive inheritance

Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.

417
(71.2%)

Branchiogenic deafness syndrome

Cleft palate Short distal phalanx of finger

Autosomal dominant inheritance

Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.

417
(71.2%)

Early infantile epileptic encephalopathy

Cleft palate Short finger

A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.

419
(71.2%)

Nasopalpebral lipoma-coloboma syndrome

Broad forehead Clinodactyly of the 5th finger Eyelid coloboma Hypoplasia of the maxilla

Autosomal dominant inheritance

Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.

420
(71.2%)

Verloove Vanhorick-Brubakk syndrome

Cleft palate Limb undergrowth Micrognathia Non-midline cleft lip

Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.