Mandibuloacral dysplasia
| Mandibuloacral dysplasia | |
|---|---|
| Other names | MAD[1] |
| This condition is inherited in an autosomal recessive manner. | |
| Specialty | Medical 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
- ^ "Mandibuloacral dysplasia". Genetic and Rare Diseases. NIH. Retrieved 19 March 2019.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.