C syndrome - CISMeF

Preferred Label : C syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Opitz trigonocephaly syndrome; Trigonocephaly syndrome;

Description : 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.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CD96 gene (CD96, 606037.0001);

Prefixed ID : #211750;

Details

Origin ID

211750;

UMLS CUI

C0796095;

Automatic exact mappings (from CISMeF team)
- C syndrome [ICD-11 More detail]
- C syndrome [MedDRA LLT]
- C syndrome [DO Concept]
- Opitz trigonocephaly syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- C syndrome [Disease (Nov.)]
- C syndrome [ORDO Disease]
- Opitz trigonocephaly syndrome [MeSH concept]
- Trigonocephaly C syndrome (disorder) [SNOMED CT concept]
- opitz trigonocephaly syndrome [MeSH Supplementary Concept]
DO Cross reference
- C syndrome [DO Concept]
Genes related to phenotype
- Cd96 antigen [OMIM gene]
HPO term(s)
- Accessory oral frenulum [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly [HPO term]
- Clitoral hypertrophy [HPO term]
- Cryptorchidism [HPO term]
- Cutis laxa [HPO term]
- Delayed skeletal maturation [HPO term]
- Dislocated radial head [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Fused sternal ossification centers [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Hypotonia [HPO term]
- Limb undergrowth [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Omphalocele [HPO term]
- Patent ductus arteriosus [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Psychomotor retardation [HPO term]
- Radial deviation of finger [HPO term]
- Renal cortical cysts [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short metacarpal [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Thick anterior alveolar ridges [HPO term]
- Toe syndactyly [HPO term]
- Trigonocephaly [HPO term]
- Ulnar deviation of finger [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- C syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- C syndrome [ORDO Disease]
- C syndrome [Disease (Nov.)]
- C syndrome [DO Concept]
- C syndrome [MedDRA LLT]
- Opitz trigonocephaly syndrome [MeSH concept]
- Opitz trigonocephaly syndrome [MedDRA Preferred Term]
- Trigonocephaly C syndrome (disorder) [SNOMED CT concept]
- opitz trigonocephaly syndrome [MeSH Supplementary Concept]

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