The Rare Disorder: Aarskog-Ose-Pande syndrome

Aarskog-Ose-Pande syndrome:  A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay.

This syndrome is a rare type of medical disorder where the main symptoms include lipodystrophy on the buttocks and face. Since this is an adipose tissue defect, the loss of body fat in the body could get severe and this state could progress extensively. There are three kinds of lipodystrophy: localized lipodystrophy, partial lipodystrophy and total lipodystrophy. One other symptom is Rieger anomaly. This anomaly is characterized by the absence or underdevelopment of teeth (it could also mean the delay of tooth eruption) and some abnormalities of the eyes and face. Having sparse hair is also a common sign. This does not only mean hair on one’s head but also body hairs. Other defects include retardation of bone age and abnormal motion of the joints (which could eventually lead to dislocation). This syndrome could begin to affect the patient as early as the fetal stage. It could ruin the growth of the fetus in the uterus by slowing its development. When this happens, many other systems are affected.

Development of the patient’s skills on speech could also be delayed when this disorder is acquired. This and all other symptoms are similar to characteristics of many other diseases that is why the physician should perform a thorough checkup of the patient to be able to diagnose the real condition. Aarskog Ose Pande syndrome is also considered as a variant of Short syndrome. This symptom does not only mean having a short stature but also having low weight at birth and fat losses on the skin.

Prevalence

It only affects 1 in every 2,000 individuals that is why it is classified as a rare disease.

External Links

Patient UK information on Aarskog Ose Pande Syndrome.

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