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C syndrome
Friday 5 October 2007
The C syndrome (MIM.211750) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies.
Etiology
CD96 mutations may cause a form of the C syndrome (MIM.211750) by interfering with cell adhesion and growth.
References
Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome. Am J Hum Genet. 2007 Oct;81(4):835-41.PMID: 17847009