799
(65.2%)

Mucolipidosis type IV

Everted lower lip vermilion Micrognathia

Autosomal recessive inheritance

Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.

799
(65.2%)

WAGR syndrome

Everted lower lip vermilion Micrognathia

Autosomal dominant inheritance Somatic mutation Contiguous gene syndrome

A rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

803
(65.2%)

Cole-Carpenter syndrome

Abnormality of dental enamel Abnormality of the metaphysis Downslanted palpebral fissures Micrognathia

An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

803
(65.2%)

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Genu varum Micrognathia Short hard palate Telecanthus

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.

803
(65.2%)

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Fractures of the long bones Micrognathia Upslanted palpebral fissure Widely spaced teeth

803
(65.2%)

Zellweger syndrome

Abnormality of the tongue Epicanthus Epiphyseal stippling Micrognathia

A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

807
(65.2%)

Fetal trimethadione syndrome

Bilateral single transverse palmar creases Epicanthus High palate Micrognathia

A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.

807
(65.2%)

Subaortic stenosis-short stature syndrome

Epicanthus Microdontia Micrognathia Synostosis of carpal bones

Autosomal recessive inheritance

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.

809
(65.2%)

Proteus syndrome

Abnormality of finger Abnormality of the metacarpal bones Craniofacial hyperostosis Downslanted palpebral fissures Gingival overgrowth

Somatic mutation Sporadic

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

810
(65.1%)

FRAXE intellectual disability

Clinodactyly of the 5th finger Epicanthus Macrocephaly Thick vermilion border

X-linked inheritance X-linked recessive inheritance

FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.

810
(65.1%)

Koolen-De Vries syndrome

Arachnodactyly Epicanthus Everted lower lip vermilion Microcephaly

Autosomal dominant inheritance Contiguous gene syndrome Sporadic

Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.

810
(65.1%)

Ichthyosis follicularis-alopecia-photophobia syndrome

Abnormal eyelid morphology Abnormality of the hand Camptodactyly of finger Cheilitis Microcephaly

Autosomal dominant inheritance X-linked recessive inheritance

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

810
(65.1%)

Costello syndrome

Epicanthus Macrocephaly Thick lower lip vermilion Ulnar deviation of finger

Autosomal dominant inheritance Sporadic

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

814
(65.1%)

Mesomelic dysplasia, Nievergelt type

Aplasia/Hypoplasia of the radius Large face Micromelia Radioulnar synostosis

Autosomal dominant inheritance

815
(65.0%)

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

Brachydactyly Everted lower lip vermilion Macrocephaly

A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.

816
(65.0%)

Cono-spondylar dysplasia

Anteverted nares Short humerus

Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.

817
(65.0%)

Fibular aplasia-complex brachydactyly syndrome

Abnormality of the ulna Brachydactyly Micromelia Narrow nasal bridge

Autosomal recessive inheritance

A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).

818
(65.0%)

Werner syndrome

Micromelia Narrow face Neoplasm of the oral cavity Small hand

Autosomal recessive inheritance

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

819
(65.0%)

Mosaic trisomy 22

Craniofacial asymmetry Unilateral radial aplasia

Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.

820
(64.9%)

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

Hypoplasia of the odontoid process Malar flattening Short palm

Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).

821
(64.9%)

Pseudoleprechaunism syndrome, Patterson type

Abnormal mandible condylar process morphology Genu valgum Large hands Prominent nose

Sporadic

Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.

822
(64.9%)

Nephrogenic diabetes insipidus-intracranial calcification syndrome

Carious teeth Downslanted palpebral fissures Micrognathia

This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.

822
(64.9%)

Aniridia-renal agenesis-psychomotor retardation syndrome

Downturned corners of mouth Micrognathia Telecanthus

Autosomal recessive inheritance

An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.

822
(64.9%)

3-phosphoserine phosphatase deficiency

Micrognathia Palpebral edema Wide mouth

Autosomal recessive inheritance

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

822
(64.9%)

Deafness with labyrinthine aplasia, microtia, and microdontia

Downslanted palpebral fissures Hypodontia Micrognathia

Autosomal recessive inheritance

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

822
(64.9%)

X-linked mandibulofacial dysostosis

Epicanthus High palate Micrognathia

X-linked inheritance X-linked recessive inheritance

X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.

822
(64.9%)

1p21.3 microdeletion syndrome

Micrognathia Upslanted palpebral fissure Wide mouth

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

822
(64.9%)

ICF syndrome

Epicanthus Macroglossia Micrognathia

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

822
(64.9%)

ADULT syndrome

Abnormality of the dentition Ankyloblepharon Microretrognathia

Autosomal dominant inheritance

A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

822
(64.9%)

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

Abnormal eyelash morphology Abnormality of the dentition Micrognathia

Autosomal dominant inheritance

A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.

822
(64.9%)

8p11.2 deletion syndrome

Epicanthus High palate Micrognathia

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

822
(64.9%)

17p11.2 microduplication syndrome

Downslanted palpebral fissures Micrognathia Wide mouth

Sporadic

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

822
(64.9%)

Johanson-Blizzard syndrome

Abnormality of the dentition Absent eyelashes Micrognathia

Autosomal recessive inheritance

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

822
(64.9%)

Microphthalmia with linear skin defects syndrome

Abnormal eyelid morphology Abnormality of dental enamel Micrognathia

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

822
(64.9%)

Trichothiodystrophy

Carious teeth Epicanthus Hypoplasia of mandible relative to maxilla

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).

836
(64.9%)

Jeune syndrome

Brachydactyly Micromelia Renal insufficiency Short foot

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

837
(64.9%)

Metaphyseal chondrodysplasia, Schmid type

Brachydactyly Frontal bossing Limb undergrowth Micrognathia

Autosomal dominant inheritance

Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.

837
(64.9%)

Greenberg dysplasia

Brachydactyly Micrognathia Micromelia Midface retrusion

Autosomal recessive inheritance

Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

839
(64.9%)

Microcornea-glaucoma-absent frontal sinuses syndrome

Absent frontal sinuses Epicanthus Torus palatinus

Autosomal dominant inheritance

Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.

839
(64.9%)

SIX2-related frontonasal dysplasia

Absent/hypoplastic paranasal sinuses Epicanthus inversus Prominent palatine ridges

841
(64.9%)

Dysostosis, Stanescu type

Brachydactyly Hypoplasia of the maxilla Macroglossia Micromelia

Autosomal dominant inheritance

Stanescu type dysostosis is a rare form of osteosclerosis.

842
(64.8%)

Omenn syndrome

Aplasia/Hypoplasia of the eyebrow Short toe

Autosomal recessive inheritance

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

843
(64.8%)

Multiple epiphyseal dysplasia, Beighton type

Narrow mouth Short palm

Autosomal dominant inheritance

Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

843
(64.8%)

Cardiospondylocarpofacial syndrome

Misalignment of teeth Short palm

Autosomal dominant inheritance

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

843
(64.8%)

Short stature-valvular heart disease-characteristic facies syndrome

Abnormality of the dentition Small hand

Autosomal dominant inheritance

Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.

843
(64.8%)

Grubben-de Cock-Borghgraef syndrome

Abnormality of the dentition Small hand

Autosomal recessive inheritance

Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.

843
(64.8%)

Corneodermatoosseous syndrome

Gingivitis Short palm

Autosomal dominant inheritance

A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.

843
(64.8%)

Muenke syndrome

High, narrow palate Malar flattening Short foot Short palm

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.

849
(64.8%)

Short fifth metacarpals-insulin resistance syndrome

Nasal obstruction Short 5th metacarpal

Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.

849
(64.8%)

Multiple synostoses syndrome

Broad thumb Facial asymmetry Short palm

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

849
(64.8%)

Peripheral dysostosis

Flat face Short metacarpal

Autosomal dominant inheritance

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

849
(64.8%)

Pseudopseudohypoparathyroidism

Round face Shortening of all metacarpals

Autosomal dominant inheritance

Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

849
(64.8%)

Refsum disease

Anosmia Short metacarpal

Autosomal recessive inheritance

A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

854
(64.7%)

46,XX disorder of sex development-skeletal anomalies syndrome

Deformed humerus Mandibular condyle hypoplasia Micrognathia

Autosomal recessive inheritance

46,XX disorder of sex development-skeletal anomalies syndrome is characterised by primary amenorrhoea, ambiguous external genitalia, and bone abnormalities (hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads, etc.). It has been described in two sisters born to consanguineous parents.

854
(64.7%)

Chondroectodermal dysplasia with night blindness

Abnormality of dental morphology Micrognathia Wide humerus

Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.

856
(64.7%)

Meckel syndrome

Bowing of the long bones Cleft palate Micrognathia Postaxial hand polydactyly

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

857
(64.7%)

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

Abnormal eyebrow morphology Microcephaly Thin upper lip vermilion Triphalangeal thumb

Autosomal recessive inheritance

This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.

858
(64.7%)

Trisomy X

Clinodactyly of the 5th finger Epicanthus Microcephaly Radioulnar synostosis

Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).

859
(64.7%)

Holzgreve syndrome

Abnormality of the ulna Cleft palate Hand polydactyly Turricephaly

Autosomal recessive inheritance

Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.

860
(64.7%)

Spondyloepimetaphyseal dysplasia, aggrecan type

Brachydactyly Broad thumb Mandibular prognathia

Autosomal recessive inheritance

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

861
(64.7%)

Richieri Costa-da Silva syndrome

Blepharophimosis Decreased anterioposterior diameter of lumbar vertebral bodies Genu valgum Narrow mouth

Autosomal recessive inheritance

Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.

862
(64.6%)

Spondylometaphyseal dysplasia, 'corner fracture' type

Hypoplasia of the odontoid process Micromelia Tetralogy of Fallot

Autosomal dominant inheritance

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

863
(64.6%)

Müllerian aplasia and hyperandrogenism

Brachydactyly Cubitus valgus Short neck Short philtrum Thick eyebrow

Autosomal dominant inheritance

864
(64.5%)

Atypical Rett syndrome

Abnormality of the metacarpal bones Clinodactyly of the 5th finger Long philtrum Microcephaly Wide mouth

A rare neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).

865
(64.5%)

Renal hypoplasia

Cleft lip Microcephaly Split hand Telecanthus Triphalangeal thumb

Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.

866
(64.5%)

Ophthalmomandibulomelic dysplasia

Aplasia/Hypoplasia of the radius Obtuse angle of mandible Radioulnar synostosis

Autosomal dominant inheritance

Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.

867
(64.5%)

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Cleft palate Downslanted palpebral fissures Malar flattening Palmoplantar cutis gyrata

Autosomal dominant inheritance

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

868
(64.5%)

Anotia

Bifid tongue Facial paralysis Micrognathia Micromelia

A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.

868
(64.5%)

Progressive hemifacial atrophy

Hemiatrophy High palate Micrognathia

Sporadic

Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.

870
(64.5%)

Blepharo-cheilo-odontic syndrome

Abnormal eyelid morphology Bilateral cleft lip and palate Finger syndactyly

Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

870
(64.5%)

Blepharonasofacial malformation syndrome

Cleft palate Epicanthus Finger syndactyly Non-midline cleft lip

Autosomal dominant inheritance X-linked dominant inheritance

Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.

872
(64.4%)

Arachnodactyly-abnormal ossification-intellectual disability syndrome

Arachnodactyly Downslanted palpebral fissures Micrognathia

A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.

872
(64.4%)

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

Adducted thumb Downslanted palpebral fissures Micrognathia Wide nasal bridge

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.

872
(64.4%)

Braddock syndrome

Epicanthus Micrognathia Preaxial hand polydactyly

Autosomal recessive inheritance

Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.

872
(64.4%)

Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

Adducted thumb Blepharophimosis Micrognathia Sloping forehead

X-linked inheritance

Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.

872
(64.4%)

10q22.3q23.3 microdeletion syndrome

Arachnodactyly Epicanthus Microretrognathia

10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.

872
(64.4%)

Congenital cataracts-facial dysmorphism-neuropathy syndrome

Camptodactyly of finger Long eyelashes Micrognathia

Autosomal recessive inheritance

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

872
(64.4%)

49,XXXYY syndrome

Epicanthus Finger clinodactyly Micrognathia

49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.

872
(64.4%)

Monosomy 13q34

Epicanthus Micrognathia Postaxial hand polydactyly

Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.

880
(64.4%)

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

Camptodactyly of finger Cleft palate Micrognathia

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.

880
(64.4%)

Bowen-Conradi syndrome

Clinodactyly of the 5th finger Micrognathia Oral cleft

Autosomal recessive inheritance

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

880
(64.4%)

Cerebrocostomandibular syndrome

Cleft palate Clinodactyly of the 5th finger Glossoptosis Micrognathia

Autosomal dominant inheritance Autosomal recessive inheritance

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

880
(64.4%)

Fetal akinesia deformation sequence

Camptodactyly of finger Cleft palate Micrognathia

Autosomal recessive inheritance

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

880
(64.4%)

Familial visceral myopathy

Arachnodactyly Cleft palate Micrognathia

Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

880
(64.4%)

Proximal 16p11.2 microdeletion syndrome

Cleft palate Hand polydactyly Micrognathia

Contiguous gene syndrome

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

880
(64.4%)

Holoprosencephaly-postaxial polydactyly syndrome

Cleft palate Micrognathia Narrow mouth Postaxial hand polydactyly

Autosomal recessive inheritance

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).

880
(64.4%)

Loeys-Dietz syndrome

Arachnodactyly Bifid uvula Micrognathia Oral cleft

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

888
(64.4%)

Spinocerebellar ataxia-dysmorphism syndrome

Cubitus valgus Epicanthus Macrocephaly Slender long bone Thick vermilion border

Autosomal recessive inheritance

Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.

889
(64.2%)

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Downslanted palpebral fissures Long philtrum Macrocephaly Pes planus

Autosomal dominant inheritance

890
(64.2%)

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Brachydactyly Furrowed tongue Micromelia

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.

891
(64.2%)

Crouzon syndrome-acanthosis nigricans syndrome

Abnormal palate morphology Abnormality of the metacarpal bones Brachydactyly Hypoplasia of the maxilla

Autosomal dominant inheritance

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

892
(64.2%)

Berardinelli-Seip congenital lipodystrophy

Abnormal oral cavity morphology Large hands Mandibular prognathia

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

893
(64.2%)

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

Abnormal thumb morphology Epicanthus Long philtrum Scoliosis

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.

893
(64.2%)

Freeman-Sheldon syndrome

Downslanted palpebral fissures Long philtrum Scoliosis Ulnar deviation of finger

Autosomal dominant inheritance Autosomal recessive inheritance

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

895
(64.1%)

RAPADILINO syndrome

Absent thumb Patellar aplasia Slender nose

Autosomal recessive inheritance

A rare 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.

895
(64.1%)

Humero-radial synostosis

Aplasia/Hypoplasia of the thumb Choanal stenosis Patellar hypoplasia

Autosomal dominant inheritance Autosomal recessive inheritance

Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.

895
(64.1%)

Angioosteohypertrophic syndrome

Facial asymmetry Hand oligodactyly

Sporadic

A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.

895
(64.1%)

Glomus tumor

Epistaxis Small finger

899
(64.1%)

Sialuria

Epicanthus Long hallux Spinal deformities Thin upper lip vermilion

Autosomal dominant inheritance

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

900
(64.1%)

Focal dermal hypoplasia

Abnormality of epiphysis morphology Abnormality of the dentition Hand polydactyly Orbital cyst Short ribs

X-linked dominant inheritance

A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.