Aarskog syndrome: a familial syndrome of short stature with facial dysmorphism and genital anomalies

ABSTRACT

Aarskog syndrome, also known as Aarskog-Scott syndrome, a familial syndrome combining short stature, abnormal facies, genital, hand and foot abnormalities. Characteristic features include a round face with a broad forehead, a broad nasal bridge with a short stubby nose and anteverted nostrils, hypertelorism, and a shawl [saddlebag] scrotum. There are also hand and foot anomalies, and the cornea is usually enlarged. Males are fully affected; but female carriers sometimes exhibit phenotypical manifestations. The affected child has generally good health and developmental landmarks are within normal limits. In some cases, moderately impaired intelligence or early delay in motor performance, or both are recognized