Mandibuloacral dysplasia | |
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Classification and external resources | |
OMIM | 248370 |
DiseasesDB | 33029 |
Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.
Types include: