Tel Hashomer camptodactyly syndrome
 | 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]
Presentation
[edit]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
[edit]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
[edit]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
- Toriello et al. describes two Latin American siblings with the disorder, both of them showing mitral valve prolapse
- 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
[edit]- ^ "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.
- ^ a b Shah K, Sreekanth R, Thomas B, Danda S (January 2013). "Tel Hashomer camptodactyly syndrome: a case report". The West Indian Medical Journal. 62 (1): 81–83. PMID 24171333.
- ^ Smolkin T, Blazer S, Gershoni-Baruch R, Makhoul IR (October 2011). "Tel Hashomer camptodactyly syndrome in identical twin infants". Clinical Dysmorphology. 20 (4): 214–216. doi:10.1097/MCD.0b013e32834a044f. PMID 21814136.
- ^ Bissonnette B, Luginbuehl I, Marciniak B, Dalens BJ (2006), "Tel Hashomer Camptodactyly Syndrome", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies, retrieved 2022-05-18
- ^ Wijerathne BT, Meier RJ, Agampodi SB (September 2016). "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. PMC 5030737. PMID 27650795.
- ^ Bissonnette B, Luginbuehl I, Engelhardt T (2019). Tel Hashomer Camptodactyly Syndrome (2 ed.). New York, NY: McGraw-Hill Education. Retrieved 2022-05-18.
{{cite book}}:|work=ignored (help) - ^ Patel ZM, Adhia RA (October 2004). "Tel-Hashomer camptodactyly syndrome with hirsuitism in an Indian family". The Journal of the Association of Physicians of India. 52: 837–8. PMID 15909866.