Mandibuloacral dysplasia

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Mandibuloacral dysplasia
Classification and external resources
OMIM 248370
DiseasesDB 33029

Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicals, 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[edit]

References[edit]

  1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M (2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.". Eur J Hum Genet. 20 (11): 1134–40. doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407. 
  3. ^ Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S (2012). "Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.". Hum Mol Genet. 21 (18): 4084–93. doi:10.1093/hmg/dds233. PMC 3428156. PMID 22718200.