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| Ulna hypoplasia-intellectual disability syndrome | |
|---|---|
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| Specialty | Medical genetics |
| Prevention | none |
| Prognosis | Poor |
| Frequency | very rare, only 2 cases have been described in medical literature |
| Deaths | 2 |
Ulna hypoplasia-intellectual disability syndrome is a very rare genetic disorder which is characterized by shortening of the arms associated with ulnar aplasia/hypoplasia, bilateral clubbed feet, widespread nail aplasia/hypoplasia, and severe psychomotor delays with intellectual disabilities. It has only been described in two siblings born to consanguineous Arab parents. It is thought to be inherited in an autosomal recessive manner.
References
- "Ulna hypoplasia-intellectual disability syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-13.
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Ulna hypoplasia intellectual disability syndrome". www.orpha.net. Retrieved 2022-06-13.
{{cite web}}: CS1 maint: numeric names: authors list (link) - "hpojaxorg".
- "OMIM Entry - 276821 - ULNAR HYPOPLASIA WITH MENTAL RETARDATION". omim.org. Retrieved 2022-06-13.
- Kohn, G.; Malinger, G.; el Shawwa, R.; Scheinfeld, A.; Tepper, R.; Ornoy, A.; Lachman, R.; Rimoin, D. L. (1995-03-27). "Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome". American Journal of Medical Genetics. 56 (2): 132–135. doi:10.1002/ajmg.1320560203. ISSN 0148-7299. PMID 7625433.
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