The Aarskog (facio-digital-genital) syndrome in South Africa. A report of three families.
Aarskog's syndrome comprises facial, digital and genital anomalies associated with short stature. Six affected males from three families were examined, and their clinical features are discussed. The presence of cleft lip in 1 of the patients supports the suggestion that cleft lip and cleft palate may well be a feature of the syndrome. Analysis of the pedigrees of the three families supports an X-linked recessive mode of inheritance with minimal expression in female carriers. The ultimate prognosis for affected individuals is good.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001835:Body Weight; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010375:Pedigree; D012611:Scrotum / Q000002:abnormalities*; D013577:Syndrome