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last update : 22-02-2012
Symbol MADYS2
Location 1p34.2
Name mandibuloacral dysplasia 2
Corresponding gene ZMPSTE24
Main clinical features
  • mandibular and clavicular hypoplasia, acro-osteolysis, joint contractures, skin atrophy, mottled pigmentation, early onset (2 years), generalized lipodystrophy
  • several skeletal anomalies, including delayed closure of the fontanels and multiple wormian bones, hypoplastic clavicles, short terminal phalanges with acroosteolysis
  • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    Type disease
    Gene product
    Name zinc metalloproteinase (STE24 homolog, yeast)
    Remark(s) . Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia (PMID: 21267004))