Aarskog Scott syndrome is an uncommon disorder inherited as autosomal dominant or X-linked and characterized by short stature, facial abnormalities, reproductive and skeletal anomalies. This condition mainly affects males, although females may have moderate characteristics of this syndrome.
The Aarskog Scott syndrome (AAS) is also called the Aarskog syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia.
Signs and symptoms of Aarskog Scott Syndrome
Individuals with Aarskog-Scott syndrome frequently have distinctive facial features, like widely spaced eyes (hypertelorism), a little nose, a very long area between the mouth and nose (philtrum), along with also a widow’s peak hairline. They often have mild to moderate short stature through childhood, but their growth generally catches up with that of the peers throughout puberty. Hand abnormalities are frequent in this syndrome also contain short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), plus one crease throughout the palm. Other abnormalities in individuals with Aarskog-Scott syndrome include heart defects and also a split from the top lip (cleft lip) with or without an opening in the roof of their mouth (cleft palate).
Most males with Aarskog-Scott syndrome possess a shawl scrotum, where the scrotum encircles the penis rather than dangling below. Less often, they’ve undescended testes (cryptorchidism) or even a gentle out-pouching around the belly-button (umbilical hernia) or at the lower stomach (inguinal hernia).
The intellectual development of individuals with Aarskog-Scott syndrome varies broadly. Some can have moderate learning and behavior issues, but some have normal brains. In rare instances, severe intellectual disability was reported.
Treatment of Aarskog Scott Syndrome
Similar to all genetic diseases Aarskog–Scott syndrome cannot be cured, although numerous treatments exist to increase the quality of life.
Surgery may be required to correct some of the anomalies, and orthodontic treatment may be used to correct some of the facial abnormalities. Trials of growth hormone have been effective to treat short stature in this disorder.
