Definition:
An extremely rare malformation disorder, Upington disease only has one published source that claims its existence in three generations from South Africa. It is characterized by pelvic anomalies and multiple bone tumors.
Treatment:
Treatment for Upington disease varies with the patient's age. Infants younger than 3 months may undergo gentle manipulation to reduce the dislocation. A splint-brace may also be used, which the infant will use for 2 to 3 months. A night splint is then used for another month to tighten the joint capsule.
Symptoms and Signs:
There are several symptoms associated with Upington disease but the most common are coax vera, pelvis anomaly, absent femur, poor joint mobility, and enchondromata.
Causes:
It is indicated that the disease is an autosomal dominant form of inheritance, which means that the defective gene is located on an autosome, and one copy of the gene is sufficient to cause the disorder when inherited from an affected parent.
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