Tel Hashomer camptodactyly syndrome explained

Tel Hashomer camptodactyly syndrome
Synonyms:	Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases.^[1]
Symptoms:	Camptodactyly, facial dysmorphisms, and abnormalities throughout the body (both internal and external)
Onset:	Birth
Duration:	Life-long
Differential:	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]}

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.^{[7] [8]}

Cases

The following is a list of every case report of the disorder.^[9]

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
   1. 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.

Notes and References

1. Web site: 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. Web site: Orphanet . Tel Hashomer camptodactyly syndrome . 2022-05-18 . en.
3. Web site: Tel Hashomer camptodactyly syndrome - About the Disease . Genetic and Rare Diseases Information Center . 2022-05-18 . U.S. National Institutes of Health . en.
4. Pagnan NA, Gollop TR, Lederman H . 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 . 3281460 . 10.1002/ajmg.1320290224 .
5. Shah K, Sreekanth R, Thomas B, Danda S . Tel Hashomer camptodactyly syndrome: a case report . The West Indian Medical Journal . 62 . 1 . 81–83 . January 2013 . 24171333 .
6. Smolkin T, Blazer S, Gershoni-Baruch R, Makhoul IR . Tel Hashomer camptodactyly syndrome in identical twin infants . en-US . Clinical Dysmorphology . 20 . 4 . 214–216 . October 2011 . 21814136 . 10.1097/MCD.0b013e32834a044f .
7. Wijerathne BT, Meier RJ, Agampodi SB . 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 . 27650795 . 5030737 . 10.1186/s13256-016-1048-7 . free .
8. Book: Bissonnette B, Luginbuehl I, Engelhardt T . Tel Hashomer Camptodactyly Syndrome . 2019 . Syndromes: Rapid Recognition and Perioperative Implications . 2 . New York, NY . McGraw-Hill Education . 2022-05-18 .
9. Patel ZM, Adhia RA . Tel-Hashomer camptodactyly syndrome with hirsuitism in an Indian family . The Journal of the Association of Physicians of India . 52 . 837–8 . October 2004 . 15909866 .