Aarskog Syndrome

Demographics

Only males are affected with Aarskog syndrome, although carrier females may have subtle changes of the facial structures and be shorter than noncarrier sisters. There are no high risk racial or ethnic groups.

Signs and symptoms

Manifestations of Aarskog syndrome are present from birth. The facial appearance is distinctive and in most cases is diagnostic. Changes are present in the upper, middle, and lower portion of the face. Increased width of the forehead, growth of scalp hair into the middle of the forehead (widow's peak), increased space between the eyes (ocular hypertelorism), a downward slant to the eye openings, and drooping of the upper eyelids (ptosis) are the major features in the upper part of the face. A short nose with forward-directed nostrils and simply formed small ears that may protrude are the major findings in the mid-part of the face. The mouth is wide and the chin small. As the face elongates in adult life, the prominence of the forehead and the increased space between the eyes becomes less apparent. Dental abnormalities include slow eruption, missing teeth, and broad upper incisors.

The fingers are often held in a distinctive position with flexion at the joint between the hand and the fingers, over extension at the first joint of the finger and flexion at the second joint. This hand posturing becomes more obvious when there is an attempt to spread the fingers. There may also be some mild webbing between the fingers. The fingers are short and there is often only a single crease across the middle of the palm. The toes are also short and the foot is often bent inward at its middle portion. All of the joints may be unusually loose. Excessive movement of the cervical spine may lead to impingement on the spinal cord. In some cases, the sternum (breastbone) may appear depressed (pectus excavatum).

Changes in the appearance of the genitals may also be helpful in diagnosis. One or both testes may remain in the abdomen, rather than descending into the scrotal sac. The scrotum tends to surround the penis giving a socalled "shawl scrotum" appearance. Hernias may appear in the genital and umbilical regions. Linear growth in childhood and adult height are generally less than in unaffected brothers. The head size is usually normal.

Although most affected males have normal intellectual function, some individuals will have mild impairments. There does not appear to be any particular association with behavioral disturbances. However, attention deficit occurs among some boys with learning difficulties.

Content licensed from:

Author Info: Roger E. Stevenson MD, The Gale Group Inc., Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part I, 2002

This feature is for informational purposes only and should not be used to replace the care and information received from your healthcare provider. Please consult a healthcare professional with any health concerns you may have.