| Alopecia contractures dwarfism intellectual disability syndrome | |
|---|---|
| Other names | Alopecia-contractures-dwarfism-intellectual disability syndrome |
| Specialty | Neurology, Genetic disorder |
Alopecia contractures dwarfism intellectual disability syndrome or (ACD intellectual disability 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]
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Transcription
References
- ^ "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 doi:10.1002/1096-8628(20000703)93:1<47::AID-AJMG8>3.0.CO;2-A
- Johns Hopkins University: OMIM, Online Mendelian Inheritance in Man, MIM ID 203550
External links
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This page was last edited on 25 April 2023, at 12:25