Ulna hypoplasia-intellectual disability syndrome
| 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
[edit]- ^ "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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