Alopecia contractures dwarfism mental retardation syndrome
Alopecia contractures dwarfism mental retardation syndrome or (ACD mental retardation syndrome) is a developmental disorder which causes mainly baldness and dwarfism in combination with intellectual disability; skeletal anomalies, caries and nearsightedness are also typical.[1]
The ACD mental retardation syndrome was first described in 1980 by Albert Schinzel and only few cases have since been identified in the world. At the time Dr. Schinzel made no conclusion of the hereditary pattern of this syndrome but similarities between cases reported by year 2000 seem to suggest autosomal or x-linked recessive inheritance or possibly a dominant mutation caused by mosaicism as causes of this syndrome.[2]
References[edit | edit source]
- ↑ "Alopecia-contractures-dwarfism-intellectual disability syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". NIH. Retrieved 18 November 2016.
- ↑ Miroslav Dumić, Marijana Cvitanovic, Jasenka Ille, Kristina Potocki: Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies, AJMG American Journal of Medical Genetics, Volume 93, 3 July 2000; Abstract on Wiley Online Library [1]
- Johns Hopkins University: OMIM, Online Mendelian Inheritance in Man, MIM ID 203550
External links[edit | edit source]
| Classification | |
|---|---|
| External resources |
 | This genetic disorder article is a stub. You can help WikiMD by expanding it. |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD
