1197
(58.8%)

Congenital hydrocephalus

Adducted thumb Downslanted palpebral fissures Facial asymmetry Microcephaly

1202
(58.8%)

Spina bifida aperta

Absence of the sacrum Ventriculomegaly

1202
(58.8%)

Anophthalmia/microphthalmia-esophageal atresia syndrome

11 pairs of ribs Cryptorchidism

Autosomal dominant inheritance

A syndrome that belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

1204
(58.8%)

Lowry-Wood syndrome

Brachydactyly Dislocated radial head Microcephaly

Autosomal recessive inheritance

A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.

1205
(58.8%)

Maternal hyperthermia-induced birth defects

Cleft palate Clinodactyly of the 5th finger Microcephaly

Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.

1205
(58.8%)

Acalvaria

Abnormal skull morphology Cleft palate Postaxial hand polydactyly

A rare malformation characterized by missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.

1205
(58.8%)

BRESEK syndrome

Cleft palate Microcephaly Postaxial hand polydactyly

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

1208
(58.8%)

Hypermobile Ehlers-Danlos syndrome

Abnormality of the dentition Abnormality of the wrist Epicanthus Wormian bones

Autosomal dominant inheritance Autosomal recessive inheritance

Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

1208
(58.8%)

Noonan syndrome with multiple lentigines

Agenesis of permanent teeth Brachycephaly Downslanted palpebral fissures Scapular winging

Autosomal dominant inheritance

A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

1210
(58.7%)

Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy

Calf muscle hypertrophy Pectus excavatum Sparse and thin eyebrow Thin vermilion border

1211
(58.7%)

Tetanus

Autoamputation of digits Glossitis Trismus

Tetanus is an infectious disease caused by the anaerobic bacterium Clostridium tetani and characterized by spasms and contractions of the skeletal muscles.

1212
(58.7%)

Oculotrichoanal syndrome

Broad nasal tip Hypertelorism Upper eyelid coloboma

Autosomal recessive inheritance

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

1213
(58.7%)

DPAGT1-CDG

Clinodactyly of the 5th finger Microcephaly Micrognathia

Autosomal recessive inheritance

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

1214
(58.7%)

Autosomal recessive spastic paraplegia type 18

Difficulty in tongue movements Flexion contracture of finger Narrow maxilla Wrist flexion contracture

Autosomal recessive inheritance

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

1215
(58.6%)

Sickle cell anemia

Chemosis Mandibular osteomyelitis Protrusio acetabuli

Autosomal recessive inheritance

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

1216
(58.6%)

Bardet-Biedl syndrome

Brachydactyly Downslanted palpebral fissures Postaxial hand polydactyly Prominent nasal bridge Short neck

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

1217
(58.4%)

Benign schwannoma

Abnormal parotid gland morphology Abnormal temporal bone morphology Abnormality of fibula morphology Chalazion

1218
(58.4%)

Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome

11 pairs of ribs Anteverted nares

Autosomal recessive inheritance

Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested.

1219
(58.3%)

Lethal omphalocele-cleft palate syndrome

Cleft palate Retrognathia Unilateral cleft lip

Autosomal recessive inheritance

Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition.

1219
(58.3%)

Familial median cleft of the upper and lower lips

Abnormality of the mandible Median cleft lip

Autosomal recessive inheritance

Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family.

1221
(58.3%)

Distal trisomy 4q

Long philtrum Microcephaly Narrow palpebral fissure

Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported.

1221
(58.3%)

Gingival fibromatosis-facial dysmorphism syndrome

Downslanted palpebral fissures Exaggerated cupid's bow Macrocephaly

Autosomal recessive inheritance

A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.

1221
(58.3%)

Deafness-craniofacial syndrome

Frontal bossing Short philtrum Upslanted palpebral fissure

Autosomal dominant inheritance

Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.

1221
(58.3%)

Overgrowth-macrocephaly-facial dysmorphism syndrome

Downslanted palpebral fissures Macrocephaly Thin upper lip vermilion

Autosomal dominant inheritance

This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

1221
(58.3%)

Piebaldism

Long philtrum Microcephaly White eyelashes

Autosomal dominant inheritance

Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.

1221
(58.3%)

Frontonasal dysplasia-alopecia-genital anomalies syndrome

Brachycephaly Broad philtrum Telecanthus

Autosomal recessive inheritance

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

1221
(58.3%)

Non-progressive cerebellar ataxia with intellectual disability

Long philtrum Macrocephaly Palpebral edema

Autosomal dominant inheritance

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

1221
(58.3%)

Ramos-Arroyo syndrome

Frontal bossing Long philtrum Upslanted palpebral fissure

Autosomal dominant inheritance

Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability.

1221
(58.3%)

Microcephaly-lymphedema-chorioretinopathy syndrome

Epicanthus Long philtrum Microcephaly

Autosomal dominant inheritance

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

1230
(58.3%)

Pseudohypoparathyroidism type 1B

Conjunctivitis Cortical subperiosteal resorption of humeral metaphyses Delayed eruption of teeth Short neck

Autosomal dominant inheritance Sporadic

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

1231
(58.3%)

Oculorenocerebellar syndrome

Mandibular prognathia Sandal gap Wide mouth

1231
(58.3%)

Cherubism

Abnormality of the dentition Abnormality of the mandible Clubbing

Autosomal dominant inheritance Autosomal recessive inheritance

Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.

1231
(58.3%)

Posterior urethral valve

Prominent nasal bridge Retrognathia Syndactyly Widely spaced teeth

Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.

1234
(58.2%)

Developmental and speech delay due to SOX5 deficiency

2-3 toe syndactyly Hyperplasia of the maxilla Narrow palate

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

1235
(58.2%)

Mucolipidosis type III

Cleft palate Craniofacial hyperostosis Hip dysplasia

1236
(58.1%)

Rhabdomyosarcoma

Hypoplastic pelvis Nasolacrimal duct obstruction Sinusitis Xerostomia

A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.

1237
(58.1%)

Blackfan-Diamond anemia

Abnormality of the hand Cleft palate Thick lower lip vermilion Triphalangeal thumb

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

1237
(58.1%)

Xp21 microdeletion syndrome

Everted lower lip vermilion Finger clinodactyly

Xp21 microdeletion syndrome is a rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.

1239
(58.1%)

Myeloid sarcoma

Clubbing Epistaxis Nasolacrimal duct obstruction Sinusitis

Myeloid sarcoma is a rare solid tumor of the myelogenous cells occurring in an extramedullary site.

1239
(58.1%)

Panhypopituitarism

Chemosis Depressed nasal ridge Polydactyly Sinusitis

1241
(58.0%)

Congenital bile acid synthesis defect type 4

Bilateral single transverse palmar creases Epicanthus Frontal bossing

Autosomal recessive inheritance

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

1242
(58.0%)

Keratoderma hereditarium mutilans

Cleft palate Microcephaly Palmoplantar hyperkeratosis

Autosomal dominant inheritance

Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

1243
(58.0%)

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

Long face Retrognathia Slender finger

Autosomal recessive inheritance

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

1243
(58.0%)

Trismus-pseudocamptodactyly syndrome

Mandibular prognathia Symphalangism affecting the phalanges of the hand Trismus

Autosomal dominant inheritance

A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.

1243
(58.0%)

Nasopharyngeal carcinoma

Epistaxis Long fingers Trismus

Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.

1246
(58.0%)

Digitotalar dysmorphism

Adducted thumb Narrow mouth Overlapping fingers

Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).

1246
(58.0%)

Recessive dystrophic epidermolysis bullosa, generalized intermediate

Mitten deformity Narrow mouth

Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

1246
(58.0%)

Junctional epidermolysis bullosa, generalized severe

Mitten deformity Narrow mouth

Autosomal recessive inheritance

Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

1249
(57.9%)

Lethal congenital contracture syndrome type 1

Micrognathia Slender long bone

Autosomal recessive inheritance

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

1250
(57.9%)

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

Aplasia/Hypoplasia of the mandible Femoral bowing Microcephaly

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

1251
(57.9%)

Wilson disease

Abnormality of the hand Micrognathia

Autosomal recessive inheritance

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

1252
(57.8%)

Conductive deafness-ptosis-skeletal anomalies syndrome

Abnormal palate morphology Clinodactyly of the 5th finger Elbow dislocation Epicanthus

Autosomal recessive inheritance

Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.

1252
(57.8%)

X-linked intellectual disability, Pai type

Epicanthus Narrow mouth Tapered finger

X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome.

1252
(57.8%)

Peroxisomal acyl-CoA oxidase deficiency

Epicanthus Hand polydactyly Hypodontia

Autosomal recessive inheritance

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

1255
(57.8%)

Alar cartilages hypoplasia-coloboma-telecanthus syndrome

Hypertelorism Non-midline cleft lip Telecanthus Underdeveloped nasal alae

Autosomal recessive inheritance

A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.

1256
(57.8%)

Bifid nose

Caudal appendage Median cleft lip

Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.

1257
(57.8%)

Giant axonal neuropathy

Abnormal hand morphology Facial palsy Genu valgum Scoliosis

Autosomal recessive inheritance

Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

1258
(57.7%)

Aspergillosis

Cheilitis Dacryocystitis Sinusitis

A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.

1258
(57.7%)

Thymoma

Cheilitis Keratoconjunctivitis sicca Sinusitis

Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland.

1260
(57.7%)

BOR syndrome

Abnormal lacrimal duct morphology Cleft palate Retrognathia

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

1261
(57.7%)

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Micrognathia

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.

1261
(57.7%)

Short stature due to primary acid-labile subunit deficiency

Micrognathia

Autosomal recessive inheritance

Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.

1261
(57.7%)

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

Micrognathia

Autosomal dominant inheritance

A rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

1261
(57.7%)

Bonnemann-Meinecke-Reich syndrome

Microcephaly Micrognathia

Autosomal recessive inheritance

Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.

1261
(57.7%)

Coloboma of iris

Micrognathia Trigonocephaly

A rare, genetic, developmental defect of the eye characterized by a uni- or bilateral notch, gap, hole or fissure, typically located in the inferonasal quadrant of the eye, involving only the pigment epithelium or the iris stroma (incomplete) or involving both (complete), manifesting with iris shape anomalies (e.g. "keyhole" or oval pupil) and/or photophobia. Association with colobomata in other parts of the eye (incl. ciliary body, zonule, choroid, retina, optic nerve) and complex malformation syndromes (such as CHARGE syndrome) may be observed.

1261
(57.7%)

Congenital mitral stenosis

Micrognathia

Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure.

1261
(57.7%)

Morgagni-Stewart-Morel syndrome

Microcephaly Micrognathia

Autosomal dominant inheritance X-linked recessive inheritance

Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.

1261
(57.7%)

Thymic aplasia

Micrognathia

1261
(57.7%)

Andersen-Tawil syndrome

Micrognathia

Autosomal dominant inheritance

A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

1261
(57.7%)

Aorta coarctation

Micrognathia

1271
(57.6%)

Primary ciliary dyskinesia

Chronic rhinitis Clubbing of fingers Halitosis Sinusitis

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

1272
(57.6%)

Brittle cornea syndrome

Abnormality of epiphysis morphology Abnormality of the dentition Arachnodactyly Cleft palate Scoliosis

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

1273
(57.6%)

Congenital syphilis

Cleft lip Frontal bossing Genu varum Hypodontia

1274
(57.6%)

Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome

Brachycephaly Down-sloping shoulders Hypoplasia of dental enamel Upslanted palpebral fissure

Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.

1274
(57.6%)

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Abnormal palate morphology Downslanted palpebral fissures Macrocephaly Narrow iliac wings

Autosomal dominant inheritance Sporadic

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

1276
(57.6%)

Morning glory disc anomaly

Encephalocele Limbal dermoid Median cleft lip

A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.

1277
(57.4%)

Craniosynostosis, Philadelphia type

Craniosynostosis Long palpebral fissure Syndactyly

Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.

1277
(57.4%)

Ring chromosome 18 syndrome

Clinodactyly Epicanthus Microcephaly

Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics.

1277
(57.4%)

Multicystic dysplastic kidney

Blepharophimosis Syndactyly Trigonocephaly

Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively; see these terms) are large, distended by multiple cysts, and non-functional.

1280
(57.4%)

Osteonecrosis of the jaw

Femur fracture Gingivitis Mandibular pain

1281
(57.4%)

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

Abnormality of the distal phalanx of the thumb Mild microcephaly Synophrys

Autosomal recessive inheritance

1281
(57.4%)

Joubert syndrome with oculorenal defect

Dandy-Walker malformation Hand polydactyly Highly arched eyebrow Long face

Autosomal recessive inheritance

A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.

1283
(57.4%)

Bazex syndrome

Lip hyperpigmentation Palmoplantar hyperkeratosis

Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.

1284
(57.4%)

Epidermolysis bullosa simplex with anodontia/hypodontia

Abnormality of the face Mandibular prognathia Short philtrum

1285
(57.3%)

Congenital hypothyroidism due to maternal intake of antithyroid drugs

Delayed epiphyseal ossification Large fontanelles Macroglossia Palpebral edema

Congenital hypothyroidism due to maternal intake of antithyroid drugs is a rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.

1285
(57.3%)

Malan overgrowth syndrome

Downslanted palpebral fissures Macrocephaly Narrow mouth Slender long bone

Autosomal dominant inheritance

Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.

1287
(57.3%)

Otodental syndrome

Abnormality of the maxilla Gingival overgrowth Long philtrum

Autosomal dominant inheritance

Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

1288
(57.3%)

Sprengel deformity

Abnormality of the shoulder girdle musculature Cleft palate Trigonocephaly

Autosomal dominant inheritance Sporadic

1289
(57.3%)

Osteopenia-intellectual disability-sparse hair syndrome

Mandibular prognathia Single transverse palmar crease

Autosomal recessive inheritance

Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.

1290
(57.3%)

Zygomycosis

Conjunctivitis Epistaxis Femur fracture Sinusitis

1291
(57.2%)

Tuberous sclerosis complex

Gingival fibromatosis Macrocephaly Macrodactyly Retinal hamartoma

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

1292
(57.2%)

Cleft lip/palate-deafness-sacral lipoma syndrome

Bilateral cleft lip and palate Facial asymmetry Hip dislocation

Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.

1292
(57.2%)

Steinert myotonic dystrophy

Hip dislocation Mask-like facies Non-midline cleft lip

Autosomal dominant inheritance

Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.

1294
(57.1%)

Currarino syndrome

Aplasia/Hypoplasia of the sacrum Microcephaly

Autosomal dominant inheritance

Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).

1295
(57.1%)

CLAPO syndrome

Capillary malformation of the lip Facial asymmetry Hemihypertrophy of upper limb Pectus excavatum

CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O).

1296
(57.1%)

Gómez-López-Hernández syndrome

Brachycephaly Telecanthus Thin vermilion border

Sporadic

Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.

1297
(57.0%)

Epidermolysis bullosa simplex due to plakophilin deficiency

Blepharitis Furrowed tongue Palmoplantar hyperkeratosis

Autosomal recessive inheritance

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

1297
(57.0%)

Congenital erythropoietic porphyria

Abnormality of the hand Blepharitis Erythrodontia

Autosomal recessive inheritance

Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis.

1297
(57.0%)

Pityriasis rubra pilaris

Abnormal oral cavity morphology Cicatricial ectropion Palmoplantar hyperkeratosis

Autosomal dominant inheritance

Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.

1300
(57.0%)

Osteopetrosis with renal tubular acidosis

Carious teeth Genu valgum Mandibular prognathia

Autosomal recessive inheritance

Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.