Microphthalmia–dermal aplasia–sclerocornea syndrome | |
---|---|
Other names | MIDAS syndrome |
This condition is inherited in an X-linked dominant manner. | |
Specialty | Medical genetics |
Microphthalmia–dermal aplasia–sclerocornea syndrome is a condition characterized by linear skin lesions. MLS is a rare X-linked dominant male-lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females, and in utero lethality for affected males. It can be associated with HCCS, mutations in it cause microphthalmia with Linear Skin Defects Syndrome.
See also
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- Happle, R.; Daniëls, O.; Koopman, R. J. J. (1993). "MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome". American Journal of Medical Genetics. 47 (5): 710–3. doi:10.1002/ajmg.1320470525. PMID 8267001.
- Linear Skin Defects with Multiple Congenital Anomalies
- Wimplinger I, Morleo M, Rosenberger G, et al. (November 2006). "Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome". Am. J. Hum. Genet. 79 (5): 878–89. doi:10.1086/508474. PMC 1698567. PMID 17033964.
- Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K (2006). "Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome". Am. J. Hum. Genet. 79 (5): 878–89. doi:10.1086/508474. PMC 1698567. PMID 17033964.
External links
Classification | D |
---|---|
External resources |
This Genodermatoses article is a stub. You can help Misplaced Pages by expanding it. |