Mandibuloacral dysplasia | |
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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