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 | |
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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.[2]: 576
Types
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| MADA | 248370 | LMNA[3] | 1q21.2 |
| MADB | 608612 | ZMPSTE24[4] | 1p34 |
See also
References
- ↑ "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
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ 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.
- ↑ 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
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