Apert syndrome

Preferred Label : Apert syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acrocephalosyndactyly, type I; Acs I; ACS1;

Included titles and symbols : Apert-crouzon disease; Acrocephalosyndactyly, type II; Acs II; Vogt cephalodactyly;

Description : Apert syndrome is a congenital disorder characterized primarily by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet with a tendency to fusion of bony structures. Most cases are sporadic, but autosomal dominant inheritance has been reported (Mantilla-Capacho et al., 2005). Cohen (1973) provided a review of all the 'craniosynostosis syndromes.';

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0010);

Prefixed ID : #101200;

Détails

Origin ID

101200;

UMLS CUI

C0001193;

Automatic exact mappings (from CISMeF team)
- ACSL1 wt Allele [NCIt concept]
- Apert-Crouzon disease [MeSH concept]
- Long-Chain-Fatty-Acid-CoA Ligase 1 [NCIt concept]
- vogt cephalodactyly [MeSH Supplementary Concept]
- vogt cephalodactyly [MeSH concept]
Currated CISMeF NLP mapping
- Acrocephalosyndactyly type I (disorder) [SNOMED CT concept]
- Apert syndrome [Disease (Nov.)]
- Apert syndrome [PASCAL descriptor]
- Apert syndrome [ICD-11 Sub-sub category]
- Apert syndrome [Radlex concept]
- Apert syndrome [ORDO Disease]
- Apert's syndrome [MedDRA LLT]
- Apert's syndrome [MedDRA Preferred Term]
- Type I Acrocephalosyndactyly [NCIt concept]
- acrocephalosyndactylia [MeSH Descriptor]
- acrocephalosyndactylia [DO Concept]
- apert syndrome [MeSH concept]
- apert's syndrome [SNOMED Notion]
DO Cross reference
- acrocephalosyndactylia [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 2 [OMIM gene]
HPO term(s)
- Abnormal morphology of the limbic system [HPO term]
- Absent septum pellucidum [HPO term]
- Acne [HPO term]
- Acrobrachycephaly [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anomalous tracheal cartilage [HPO term]
- Arachnoid cyst [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Brachycephaly [HPO term]
- Brachyturricephaly [HPO term]
- Broad distal hallux [HPO term]
- Broad distal phalanx of the thumb [HPO term]
- Broad forehead [HPO term]
- Broad thumb [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cervical C5/C6 vertebrae fusion [HPO term]
- Chiari type I malformation [HPO term]
- Choanal atresia [HPO term]
- Choanal atresia or stenosis [HPO term]
- Choanal stenosis [HPO term]
- Chronic otitis media [HPO term]
- Cleft palate [HPO term]
- Congenital onset [HPO term]
- Coronal craniosynostosis [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Cutaneous syndactyly [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Delayed eruption of teeth [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Ectopic anus [HPO term]
- Esophageal atresia [HPO term]
- Finger syndactyly [HPO term]
- Flat face [HPO term]
- Flattened nasal bridge [HPO term]
- Growth abnormality [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- High, broad forehead [HPO term]
- Humeroradial synostosis [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hyperhidrosis [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Lambdoidal craniosynostosis [HPO term]
- Large fontanelles [HPO term]
- Large, late-closing fontanelle [HPO term]
- Limited elbow movement [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Megalencephaly [HPO term]
- Midface retrusion [HPO term]
- Moderate to severe acne [HPO term]
- Myopia [HPO term]
- Narrow palate [HPO term]
- Overriding aorta [HPO term]
- Pectus carinatum [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posterior fossa cyst [HPO term]
- Preaxial hand polydactyly [HPO term]
- Proptosis [HPO term]
- Pyloric stenosis [HPO term]
- Rhizomelic arm shortening [HPO term]
- Sagittal craniosynostosis [HPO term]
- Shallow orbits [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Synostosis of carpal bones [HPO term]
- Vaginal atresia [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Apert syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalosyndactyly type I (disorder) [SNOMED CT concept]
- Apert syndrome [Radlex concept]
- Apert's syndrome [MedDRA Preferred Term]
- Apert's syndrome [MedDRA LLT]
- Type I Acrocephalosyndactyly [NCIt concept]
- apert syndrome [MeSH concept]
- apert's syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Acrocephalosyndactyly (disorder) [SNOMED CT concept]

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