Carpenter syndrome


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ac·ro·ceph·a·lo·pol·y·syn·dac·ty·ly

(ak'rō-sef'ă-lō-pol'ē-sin-dak'ti-lē),
Rare autosomal disorder with mental retardation, syndactyly, oxycephaly, congenital heart defects, mild obesity, and hypogenitalism.
Synonym(s): Carpenter syndrome

Car·pen·ter syn·drome

(kahr'pĕn-tĕr sin'drōm)
The association of primary hypothyroidism, primary adrenocortical insufficiency, and diabetes mellitus.
[C.C.J. Carpenter]

Carpenter,

Charles J., U.S. immunologist, 1931–.
Carpenter syndrome - acrocephalopolysyndactyly.

Carpenter,

George Alfred, English physician, 1859-1910.
Carpenter syndrome - the association of primary hypothyroidism, primary adrenocortical insufficiency, and diabetes mellitus.
References in periodicals archive ?
Carpenter syndrome manifests polysyndactyly and craniosynostosis with mental retardation and has recently been shown to be caused by mutations in the RAB23 gene (15).
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
In both Noack and Carpenter syndromes, the cranial and facial features are similar to those of Apert syndrome but the hands differ because of the presence of polydactyly.