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GTR Home > Conditions/Phenotypes > C syndrome

C syndrome

Synonyms
Opitz trigonocephaly syndrome; Trigonocephaly C syndrome; Trigonocephaly syndrome
Modes of inheritance
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by Kaname et al., 2007). C syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome (605039), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11. [from OMIM]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: TACTILE, CD96
    Summary: CD96 molecule

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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