C syndrome (Opitz trigonocephaly syndrome)

Genetics

• chromosomal translocation t(3;18)(q13.13;q12.1) involving CD96

Clinical manifestations

• trigonocephaly & associated anomalies
• unusual facies, wide alveolar ridges, multiple buccal frenula, limb defects, visceral anomalies, redundant skin, psychomotor retardation & hypotonia

More general terms

• trigonocephaly
• genetic syndrome (multisystem disorder)

Additional terms

• C-like syndrome (Opitz trigonocephaly-like syndrome)

Database

• OMIM: https://mirror.omim.org/entry/211750