Mandibuloacral dysplasia with type A lipodystrophy
Overview
A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities in type B. The severity of the symptoms is variable.
Symptoms
* Small jaw * Severely crowded teeth * Bone loss in extremities * Stiff joints * Skin atrophy in hands
Causes
14Q+ syndrome - 18p minus syndrome 1q deletion 2q deletion 2q22-q24 deletion