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.
It is believed to be inherited as autosomal recessive.
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.
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.
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
TP: Is Tel Hashomer camptodactyly a distinct clinical entity? Am J Med Genet A
H: The Tel Hashomer camptodactyly syndrome: Report of a new case and review of the literature. Am J Med Genet
et al: Tel Hashomer camptodactyly syndrome: Report of a case with myopathic features. J Med Genet
SB: The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: A review of the literature. ...