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]
This disorder was discovered in the late 1960s-mid 1970s by Richard M Goodman. a US-born geneticist working in Tel Aviv, Israel, since 2016, only 23 cases of this disorder have been reported in medical literature.[8][9][5]
Cases
The following is a list of every case report of the disorder.[10]
Goodman et al. describes Tel-Hashomer camptodactyly syndrome for the first time in history in two siblings that came from non-consanguineous parents.
Goodman et al. observes two additional cases of the disorder
Gollop and Colleto et al. describe members from two consanguineous Brazilian families.
Patton et al. shows that the muscle weakness in the disorder is caused by abnormal muscle histology
Tylki-Szymanska reports two people with the disorder whose parents were first cousins
Pagnan et al. describes two siblings from a Brazilian family
Zareen and Rashmi describe two Indian sisters with the disorder who came from a non-consanguineous family, both of them presented hirsutism, a feature not seen before in Tel Hashomer camptodactyly.
References
^"Tel Hashomer camptodactyly syndrome". Rare Disease Database, NIH GARD Information. U.S. National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
^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. PMID3281460.
