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

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

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This is an extremely rare syndrome with autosomal recessive inheritance.

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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.

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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.

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]

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