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Greig cephalopolysyndactyly syndrome

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Location: http://www.ojrd.com/content/3/1/10

Description: The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment.
Leslie G Biesecker Orphanet Journal of Rare Diseases 2008, 3:10 full text

Type: Reference Material
Author/Contact: Leslie G Biesecker
Institution: Orphanet Journal of Rare Diseases
Primary Subject/Category:

Language: English

Submitted by: admin
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Added: Mon Aug 10 2009