Medicine:Mandibuloacral dysplasia
From HandWiki
| Mandibuloacral dysplasia | |
|---|---|
| Other names | MAD[1] |
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 | Online Mendelian Inheritance in Man (OMIM) 248370 | LMNA[3] | 1q21.2 |
| MADB | Online Mendelian Inheritance in Man (OMIM) 608612 | ZMPSTE24[4] | 1p34 |
See also
- Hereditary sclerosing poikiloderma
- Skin lesion
References
- ↑ "Mandibuloacral dysplasia". NIH. https://rarediseases.info.nih.gov/diseases/11893/mandibuloacral-dysplasia. Retrieved 19 March 2019.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN:0-7216-2921-0.
- ↑ "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. 2012. doi:10.1038/ejhg.2012.77. PMID 22549407.
- ↑ "Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.". Hum Mol Genet 21 (18): 4084–93. 2012. doi:10.1093/hmg/dds233. PMID 22718200.
External links
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