Aarskog-Scott syndrome; faciogenital dysplasia; faciodigitogenital syndrome
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Epidemiology
- rare
Pathology
- multisystemic disorder
Genetics
- associated with defects in FGD1
Clinical manifestations
- disproportionately short stature
- facial, skeletal, & urogenital anomalies
- maxillary hypoplasia
- hypertelorism
- ptosis
- ophthalmoplegia
- strabismus
- astigmatism
- cleft lip
- cleft palate
- cryptorchidism
- brachydactyly
- digital contractures
- clinodactyly
- syndactyly
- osteochondritis dissecans
- ligamentous laxity
- finger joint hyperextensibility
- flat feet
- cervical spine hypermobility
- hemochromatosis
- macrocytic anemia
- hepatomegaly
- portal cirrhosis
- imperforate anus
- rectoperineal fistula
- interstitial pulmonary disease
More general terms
- X-linked disease
- developmental disorder syndrome (multisystem disorder)
- genetic syndrome (multisystem disorder)