Mandibuloacral dysplasia

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Mandibuloacral dysplasia
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 clavicals, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.[1]:576

Types include:

Type OMIM Gene Locus
MADA 248370 LMNA 1q21.2
MADB 608612 ZMPSTE24 1p34

See also[edit]

References[edit]

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.