FaCD Online Syndrome Fact Sheet

Last updated: 02 Jul 2008

Name: Opitz Trigonocephaly syndrome

Synonym: C syndrome, Trigonocephaly syndrome

Mode of Inheritance: AR

Genes

CD96, mapped to 3q13.13

Tumor features

hemangioma

Tumor features (possible)

medulloblastoma

Non-tumor features

developmental delay/mental deficiency/mental retardation
ears, low-set
epicanthal folds
heart, congenital defect
hypotonia
microcephaly
micrognathia
nasal bridge, broad
nasal bridge, depressed
neck, short
nose, short
palate, high arched
palpebral fissures, upward slanting
philtrum, long
skin, redundant
trigonocephaly

Comment

Typical features of this disorder are: trigonocephaly, microcephaly, a range of craniofacial dysmorphisms, short neck, loose redundant skin, hemangiomas, congenital heart defect, neonatal hypotonia and mental retardation. Medulloblastoma was diagnosed in a 12-year-old boy with the syndrome[1].

References

[1] Omran H, Hildebrandt F, Korinthenberg R, Brandis M. Probable opitz trigonocephaly C syndrome with medulloblastoma. Am J Med Genet 69[4], 395-399. 1997.