Ulna hypoplasia-intellectual disability syndrome
Topic: Medicine
From HandWiki - Reading time: 1 min
| Ulna hypoplasia-intellectual disability syndrome | |
|---|---|
 | |
| 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.[1][2][3] It has only been described in two siblings born to consanguineous Arab parents. It is thought to be inherited in an autosomal recessive manner.[4][5]
References
- ↑ "Ulna hypoplasia-intellectual disability syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/5398/ulna-hypoplasia-intellectual-disability-syndrome.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Ulna hypoplasia intellectual disability syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2249&lng=EN.
- ↑ "hpojaxorg". https://hpo.jax.org/app/browse/disease/ORPHA:2249.
- ↑ "OMIM Entry - 276821 - ULNAR HYPOPLASIA WITH MENTAL RETARDATION" (in en-us). https://omim.org/entry/276821#2.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/7625433/.
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