Tel Hashomer camptodactyly syndrome

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Tel Hashomer camptodactyly syndrome
Other namesCamptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases.[1]
SpecialtyMedical genetics
SymptomsCamptodactyly, facial dysmorphisms, and abnormalities throughout the body (both internal and external)
Usual onsetBirth
DurationLife-long
CausesGenetic mutation
Diagnostic methodPhysical evaluation, Radiography
Differential diagnosisIsolated/idiopathic variant of all of the symptoms
Preventionnone
PrognosisOk
FrequencyVery 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]

  1. Goodman et al. describes Tel-Hashomer camptodactyly syndrome for the first time in history in two siblings that came from non-consanguineous parents.
  2. Goodman et al. observes two additional cases of the disorder
  3. Gollop and Colleto et al. describe members from two consanguineous Brazilian families.
  4. Patton et al. shows that the muscle weakness in the disorder is caused by abnormal muscle histology
  5. Tylki-Szymanska reports two people with the disorder whose parents were first cousins
  6. Pagnan et al. describes two siblings from a Brazilian family
  7. Toriello et al. describes two Latin American siblings with the disorder, both of them showing mitral valve prolapse
  8. 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

  1. ^ "Tel Hashomer camptodactyly syndrome". Rare Disease Database, NIH GARD Information. U.S. National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
  2. ^ "Tel Hashomer camptodactyly syndrome". Orphanet. Retrieved 2022-05-18.
  3. ^ "Tel Hashomer camptodactyly syndrome - About the Disease". Genetic and Rare Diseases Information Center. U.S. National Institutes of Health. Retrieved 2022-05-18.
  4. ^ 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.
  5. ^ 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.
  6. ^ 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.
  7. ^ 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
  8. ^ 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.
  9. ^ 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)
  10. ^ 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.
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