Mandibuloacral dysplasia
{{Infobox medical condition (new)
| name = Mandibuloacral dysplasia
| image = Autosomal recessive - en.svg
| caption = This condition is inherited in an autosomal recessive manner.
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| field = Medical genetics
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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.James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}.{{rp|576}}
Types
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| Type
! OMIM ! Gene ! Locus | |
|---|---|
| MADA
| {{OMIM|248370 | none}}
| LMNA{{cite journal |vauthors= Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M|year= 2012|title= A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome.|journal= Eur J Hum Genet|volume= 20|issue= 11|pages= 1134–40|doi= 10.1038/ejhg.2012.77|pmc= 3476705|pmid= 22549407}} | 1q21.2 |
| MADB
| {{OMIM|608612 | none}}
| ZMPSTE24 {{cite journal |vauthors= Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S|year= 2012|title= Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.|journal= Hum Mol Genet|volume= 21|issue= 18|pages= 4084–93|doi= 10.1093/hmg/dds233|pmc= 3428156|pmid= 22718200}} | 1p34 |
See also
References
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External links
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| OMIM = 248370
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{{Cytoskeletal defects}}
{{Genodermatoses-stub}}