Corpus callosum, agenesis of, with facial anomalies and robin sequence

Preferred Label : Corpus callosum, agenesis of, with facial anomalies and robin sequence;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Toriello-carey syndrome;

Description : The Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (review by Toriello et al., 2003).;

Inheritance : Autosomal recessive;

Prefixed ID : %217980;

Détails

Origin ID

217980;

UMLS CUI

C0796184;

CISMeF manual mappings
- Toriello Carey syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Toriello-Carey syndrome [ICD-11 More detail]
- Toriello-Carey syndrome [ORDO Disease]
- corpus callosum, agenesis of, with facial anomalies and robin sequence [MeSH concept]
- corpus callosum, agenesis of, with facial anomalies and robin sequence [MeSH Supplementary Concept]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the larynx [HPO term]
- Abnormality of the pinna [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anteriorly placed anus [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Brachydactyly [HPO term]
- Cardiomyopathy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Hernia [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Laryngeal hypoplasia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow chest [HPO term]
- Neonatal respiratory distress [HPO term]
- Patent ductus arteriosus [HPO term]
- Pierre-Robin sequence [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Redundant neck skin [HPO term]
- Respiratory distress [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short palpebral fissure [HPO term]
- Syndactyly [HPO term]
- Telecanthus [HPO term]
- Tracheal stenosis [HPO term]
- Tracheomalacia [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Toriello-Carey syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Toriello Carey syndrome (disorder) [SNOMED CT concept]
- Toriello-Carey syndrome [ORDO Disease]
- corpus callosum, agenesis of, with facial anomalies and robin sequence [MeSH Supplementary Concept]
- corpus callosum, agenesis of, with facial anomalies and robin sequence [MeSH concept]

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