Symptoms Of Aarskog Syndrome

Muscle And Bone Malformations

Muscle and bone malformations can be minimal or debilitating in Aarskog syndrome. Babies are born of typical size, though growth is slow during childhood but catches up in the late teens. Individuals with Aarskog syndrome do not grow very tall. Common bone abnormalities are short fingers and permanently curved pinky fingers. Spina bifida, in which the vertebrae do not close around the spinal column, and scoliosis, a curvature of the spine, are also common malformations. Extra rib bones may be present in some cases.

Muscle malformations include congenital heart defects, inguinal hernia, umbilical hernia, and paralyzed eye muscles. Congenital heart defects can present with no symptoms or can develop into heart failure. Hernias happen when parts of the intestines push through unusual openings in the muscles that line the abdominal cavity. Some heart defects and most hernias can be repaired with surgery.

Continue for more on the various symptoms of Aarskog syndrome.