Mandibuloacral dysplasia

From Wikipedia, the free encyclopedia

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

Type OMIM Gene Locus
MADA 248370 LMNA[3] 1q21.2
MADB 608612 ZMPSTE24[4] 1p34

See also

References

Related Articles

Wikiwand AI