Global InformationTel Hashomer camptodactyly syndrome information
 | This article provides insufficient context for those unfamiliar with the subject. (May 2022) |
| Tel Hashomer camptodactyly syndrome | |
|---|---|
| Other names | Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases.[1] |
| Specialty | Medical genetics |
| Symptoms | Camptodactyly, facial dysmorphisms, and abnormalities throughout the body (both internal and external) |
| Usual onset | Birth |
| Duration | Life-long |
| Causes | Genetic mutation |
| Diagnostic method | Physical evaluation, Radiography |
| Differential diagnosis | Isolated/idiopathic variant of all of the symptoms |
| Prevention | none |
| Prognosis | Ok |
| Frequency | Very rare, 23 cases have been reported across the world |
Tel Hashomer camptodactyly syndrome is a rare genetic disorder which is characterized by camptodactyly,( a condition where one or more fingers or toes are permanently bent), facial dysmorphisms, and fingerprint, skeletal and muscular abnormalities.[2][3] This disorder is thought to be inherited in an autosomal recessive fashion.[4]
- ^ "Tel Hashomer camptodactyly syndrome". Rare Disease Database, NIH GARD Information. U.S. National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
- ^ "Tel Hashomer camptodactyly syndrome". Orphanet. Retrieved 2022-05-18.
- ^ "Tel Hashomer camptodactyly syndrome - About the Disease". Genetic and Rare Diseases Information Center. U.S. National Institutes of Health. Retrieved 2022-05-18.
- ^ Pagnan NA, Gollop TR, Lederman H (February 1988). "The Tel Hashomer camptodactyly syndrome: report of a new case and review of the literature". American Journal of Medical Genetics. 29 (2): 411–417. doi:10.1002/ajmg.1320290224. PMID 3281460.