Conditions / Syndrome
C syndrome
info · Syndrome
A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2.
Signs and symptoms
- Global developmental delay
- Epicanthus
- Upslanted palpebral fissure
- Toe syndactyly
- Micromelia
- Strabismus
- Trigonocephaly
- Anteverted nares
- Short stature
- Seizure
Also known as: OTCS; Opitz C trigonocephaly; Opitz trigonocephaly C syndrome; Opitz trigonocephaly syndrome; trigonocephaly C syndrome