Catalog

Mandibuloacral dysplasia

No MMS code

Link to WHO Definition

Mandibuloacral dysplasia – http://id.who.int/icd/entity/1687046570

Mandibuloacral dysplasia is characterised by postnatal growth retardation (late closure of the fontanelles), craniofacial anomalies and skeletal malformations, such as mandibular and clavicular hypoplasia (conferring an appearance of a receding chin and slopping shoulders), and mottled cutaneous pigmentation. Dental anomalies, acroosteolysis, joint rigidity and small stature have also been reported. They can be associated with adipose tissue loss in the limbs and sometimes with premature ageing (progeria), characterised by thin skin, sparse hair and ungual dysplasia. Two clinical forms differing in the extent of lipoatrophy have been described: type A in which partial lipoatrophy is predominant in the limbs and type B defined by a more generalised lipoatrophy.