Mandibuloacral dysplasia

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Mandibuloacral dysplasia
Classification and external resources
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OMIM 248370
DiseasesDB 33029
Patient UK Mandibuloacral dysplasia
[[[d:Lua error in Module:Wikidata at line 863: attempt to index field 'wikibase' (a nil value).|edit on Wikidata]]]

Mandibuloacral dysplasia 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.[1]:576

Types include:

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

See also

References

  1. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
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