Mandibuloacral dysplasia

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Mandibuloacral dysplasia
Other names: MAD[1]
a) Swelling on lower limb b) decreased scalp hair c)mild contractures of hands d & e) X-ray findings show acro-osteolysis

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 

Types

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

See also

References

  1. "Mandibuloacral dysplasia". Genetic and Rare Diseases. NIH. Archived from the original on 20 October 2017. Retrieved 19 March 2019. Archived 20 October 2017 at the Wayback Machine
  2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. 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.
  4. 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.

External links

Classification