Mandibuloacral dysplasia with type B 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, face and trunk in type B. The severity of the symptoms is variable.
Symptoms
* Premature death * Small chin * Small nose * Small mouth * Recessed jaw
Causes
* 14q+ syndrome * 18p minus syndrome * 1q deletion * 2q deletion * 2q22-q24 deletion