Aarskog Syndrome

Aarskog syndrome is a rare inherited condition described in 1970 by Dr D Aarskog and Dr C I Scott in 1971. It effects about one out of million children. It is a development disorder characterized by short stature with facial, genital and skeletal anomalies. The condition affects mainly males, although females may have milder features. Aarskog syndrome is associated with a wide range of features and not all features of the syndrome will be found in each individual; it affects individuals differently.

Characteristics of Aarskog Syndrome

• a characteristic facial appearance which may include a rounded face;
• a 'widow's peak' hairline;
• hypertelorism and ptosis (wide set eyes with 'drooping eyelids');
• palpebral fissures (large downward slanted eyes);
• a shawl scrotum (the pouch containing the testes enclosing the base of the penis);
• possible undescended testes and inguinal hernias;
• short stature that may not he obvious until the child is between 1 and 3 years old;
• some tissue webbing between fingers, joint hypermobility, abnormal shortness of fingers and toes and a single crease across the palm of the hands;
• hyperflexible joints.

Diagnosis of Aarskog syndrome

Diagnosis is based on the recognition of the distinctive pattern of craniofacial anomalies, disproportionate short stature, characteristic urogenital anomalies and shortening of the distal extremities (hands and feet). X-rays can reveal other distinctive abnormalities.