Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > C syndrome

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