Mandibuloacral dysplasia

Mandibuloacral dysplasia
Other namesMAD[1]
This condition is inherited in an autosomal recessive manner.
SpecialtyMedical genetics

Mandibuloacral dysplasia (MAD) 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.[2]: 576 

  1. ^ "Mandibuloacral dysplasia". Genetic and Rare Diseases. NIH. Retrieved 19 March 2019.
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.