Tel Hashomer camptodactyly syndrome: Difference between revisions
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== Etimology == |
== Etimology == |
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Only 23 cases of this disorder have been reported in medical literature.<ref>{{Cite journal |last=Wijerathne |first=Buddhika T. B. |last2=Meier |first2=Robert J. |last3=Agampodi |first3=Suneth B. |date=2016-09-20 |title=The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature |url=https://doi.org/10.1186/s13256-016-1048-7 |journal=Journal of Medical Case Reports |volume=10 |issue=1 |pages=258 |doi=10.1186/s13256-016-1048-7 |issn=1752-1947 |pmc=PMC5030737 |pmid=27650795}}</ref> |
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Only 23 cases of this disorder have been reported in medical literature. |
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Revision as of 00:44, 18 May 2022
Tel Hashomer camptodactyly syndrome is a rare genetic disorder which is characterized by camptodactyly, facial dysmorphisms and fingerprint, skeletal and muscular abnormalities.[1][2]
Presentation
This disorder has symptoms that affect the feet, hands, muscles, fingerprints, skeleton, heart and back, these include: talipes equinovarus (clubfeet), thenar/hypothenar hypoplasia, abnormalities of the palmar crease and the fingerprints, spina bifida, and mitral valve prolapse.[3][4]
Etimology
Only 23 cases of this disorder have been reported in medical literature.[5]
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Tel Hashomer camptodactyly syndrome". www.orpha.net. Retrieved 2022-05-18.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Tel Hashomer camptodactyly syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-18.
- ^ Shah, K.; Sreekanth, R.; Thomas, B.; Danda, S. (2013-01). "Tel Hashomer camptodactyly syndrome: a case report". The West Indian Medical Journal. 62 (1): 81–83. ISSN 0043-3144. PMID 24171333.
{{cite journal}}: Check date values in:|date=(help) - ^ Smolkin, Tatiana; Blazer, Shraga; Gershoni-Baruch, Ruth; Makhoul, Imad R. (2011-10). "Tel Hashomer camptodactyly syndrome in identical twin infants". Clinical Dysmorphology. 20 (4): 214–216. doi:10.1097/MCD.0b013e32834a044f. ISSN 0962-8827.
{{cite journal}}: Check date values in:|date=(help) - ^ Wijerathne, Buddhika T. B.; Meier, Robert J.; Agampodi, Suneth B. (2016-09-20). "The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature". Journal of Medical Case Reports. 10 (1): 258. doi:10.1186/s13256-016-1048-7. ISSN 1752-1947. PMC 5030737. PMID 27650795.
{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)