Alopecia contractures dwarfism intellectual disability syndrome
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Alopecia contractures dwarfism intellectual disability syndrome
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| 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.
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.
- Johns Hopkins University: OMIM, Online Mendelian Inheritance in Man, MIM ID 203550