Images in Clinical Practice

Indian Pediatrics 2002; 39:400  

Aarskog Syndrome

A 15-year-old boy was evaluated for short stature. He was proportionately short. Height was 137.2 cm (<3rd centile) and weight was 35 kg (3rd centile). He had a broad forehead, hypertelorism, ptosis, downslant of eyes, widow’s peak unilateral ptosis, small upturned nose and simian crease (Fig. 1). His ears were low set with overfolded margins. He had a crease below the lip. Hands were small with characteristic swan neck deformity of fingers due to hyperextension at proximal inter-phalangeal joints and flexion at distal interphalangeal joints (Fig. 2). He had shawl scrotum and was in stage II of sexual maturity scale. Echocardiogram and routine blood tests were normal. This child is a typical case of Aarskog syndrome with all the primary and most of the secondary diagnostic criteria.

Aarskog Syndrome is a common syndrome of proportionate short stature described by Aarskog in 1970. The facial dysmorphic features are subtle but together give a characteristic appearance. Shawl scrotum without hypoplastic genitalia in a child with short stature is quite diagnostic of Aarskog syndrome but may be absent in 20% of cases and the appearance is lost in postpubertal boys. Most patients are of normal or low normal intelligence, however, mild and moderate mental retardation may be present in upto 30% of cases. Height initially is less than third centile, but there is usually some catch-up growth during puberty, which may be delayed in some cases. Aarskog syndrome is an X linked disorder and the responsible gene is faciogenital dysplasia (FGD1) gene on Xp11.21.

Vandana Chaddha,
Shubha R. Phadke
Department of Medical Genetics,
Sanjay Gandhi Postgraduate Institute of Medical Sciences,
Lucknow 226 014, India.

Correspondence to:
Dr. Shubha R. Phadke
E-mail: [email protected]