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At a glance

Genetic disorder with muscular hypoplasia, skeletal anomalies, increased creatine phosphokinase levels, and abnormal electromyogram.


Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, Abnormal Palmar Creases Syndrome.


First termed in 1976 by Richard M Goodman, a US born medical geneticist working in Tel Aviv.


This is an extremely rare syndrome. Twenty-three separate patients described until 2016 in the medical literature.

Genetic inheritance

It is believed to be inherited as autosomal recessive.

Clinical aspects

Skeletal dysplasia, muscle hypoplasia, camptodactyly, and an abnormal dermatoglyphic pattern are the characteristics of this syndrome. Additional features may include spina bifida at C1, hypertelorism, long philtrum, and underdevelopment of the thenar and hypothenar eminences. Increased creatine kinase, abnormal electromyogram, and muscle biopsy resulted in the proposition that this condition may primarily be a myopathy. The presence of mitral valve prolapse has been reported but is not considered a constant feature of this disorder.

Anesthetic considerations

One must consider the possibility of cervical spina bifida (avoid hyperextension of the neck) and the underlying myopathy. Although no reports exist, it is recommended to administer a malignant hyperthermia-trigger-free general anesthetic or a locoregional anesthesia where possible. In presence of mitral valve prolapse, antibiotics might have to be considered depending on the surgical procedure.

Other conditions to be considered

  • Musculocontractural Ehlers-Danlos Syndrome: Rare, but recognized, autosomal recessive disorder of glycosaminoglycan synthesis. It presents with large fontanels, downward slanting palpebral fissures, significant skin hyperextensibility, atrophic scar development, camptodactyly, multiple joint contractures, recurrent joint dislocations, cardiac valve abnormalities, and normal intelligence.

  • Goodman Syndrome: Extremely rare. Malformations of the head and face, abnormalities of the hands and feet, congenital heart disease, and mental retardation.


Mendoza-Londono  R, Chitayat  D, Kahr  WH,  et al: Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. Am J Med Genet A 158A:1344, 2012.  [PubMed: 22581468]
Mochizuki  A, Hyland  J, Brown  T, Slavin  TP: Is Tel Hashomer camptodactyly a distinct clinical entity? Am J Med Genet A 167A:255, 2015.  [PubMed: 25348902]
Pagnan  NA, Gollop  TR, Lederman  H: The Tel Hashomer camptodactyly syndrome: Report of a new case and review of the literature. Am J Med Genet 29:411, 1988.  [PubMed: 3281460]
Patton  MA, McDermot  KD, Lake  BD,  et al: Tel Hashomer camptodactyly syndrome: Report of a case with myopathic features. J Med Genet 23:268, 1986.  [PubMed: 3723560]
Wijerathne  BT, Meier  RJ, Agampodi  SB: The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: A review of the literature. ...

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