Medicine:Tel Hashomer camptodactyly syndrome
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Short description: Genetic disorder
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| 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]
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, hypertelorism, long philtrum, spina bifida, and mitral valve prolapse.[5][6][7]
Etimology
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 Brazil ian 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
- Toriello et al. describes two Latin American siblings with the disorder, both of them showing mitral valve prolapse
- Zareen and Rashmi describe two India n 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).. https://rarediseases.org/gard-rare-disease/tel-hashomer-camptodactyly-syndrome/.
- ↑ "Tel Hashomer camptodactyly syndrome" (in en). Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3292.
- ↑ "Tel Hashomer camptodactyly syndrome - About the Disease" (in en). Genetic and Rare Diseases Information Center. U.S. National Institutes of Health. https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome.
- ↑ "The Tel Hashomer camptodactyly syndrome: report of a new case and review of the literature". American Journal of Medical Genetics 29 (2): 411–417. February 1988. doi:10.1002/ajmg.1320290224. PMID 3281460.
- ↑ 5.0 5.1 "Tel Hashomer camptodactyly syndrome: a case report". The West Indian Medical Journal 62 (1): 81–83. January 2013. PMID 24171333. http://caribbean.scielo.org/scielo.php?script=sci_arttext&pid=S0043-31442013000100014.
- ↑ "Tel Hashomer camptodactyly syndrome in identical twin infants" (in en-US). Clinical Dysmorphology 20 (4): 214–216. October 2011. doi:10.1097/MCD.0b013e32834a044f. PMID 21814136.
- ↑ "Tel Hashomer Camptodactyly Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (New York, NY: The McGraw-Hill Companies), 2006, http://accessanesthesiology.mhmedical.com/content.aspx?aid=58087973, retrieved 2022-05-18
- ↑ "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. September 2016. doi:10.1186/s13256-016-1048-7. PMID 27650795.
- ↑ Tel Hashomer Camptodactyly Syndrome (2 ed.). New York, NY: McGraw-Hill Education. 2019. http://accesspediatrics.mhmedical.com/content.aspx?aid=1164086238. Retrieved 2022-05-18.
- ↑ "Tel-Hashomer camptodactyly syndrome with hirsuitism in an Indian family". The Journal of the Association of Physicians of India 52: 837–8. October 2004. PMID 15909866. https://www.japi.org/w264a4c4/tel-hashomer-camptodactyly-syndrome-with-hirsuitism-in-an-indian-family.
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