Van maldergem syndrome 1

Preferred Label : Van maldergem syndrome 1;

Symbol : VMLDS1;

CISMeF acronym : VMLDS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebrofacioarticular syndrome;

Description : Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013). - Genetic Heterogeneity of Van Maldergem Syndrome See also VMLDS2 (615546), caused by mutation in the FAT4 gene (612411) on chromosome 4q28.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the Drosophila dachsous 1 gene (DCHS1, 603057.0001);

Prefixed ID : #601390;

Détails

Origin ID

601390;

UMLS CUI

C4551950;

Automatic exact mappings (from CISMeF team)
- DCHS1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Cerebrofacioarticular syndrome [ORDO Disease]
- Van Maldergem Syndrome 1 [NCIt concept]
- Van Maldergem Wetzburger Verloes syndrome [MeSH concept]
- Van Maldergem syndrome [DO Concept]
- Van Maldergem syndrome 1 [DO Concept]
- van maldergem wetzburger verloes syndrome [MeSH Supplementary Concept]
DO Cross reference
- Van Maldergem syndrome 1 [DO Concept]
Genes related to phenotype
- Dachsous cadherin-related 1 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the hand [HPO term]
- Anal atresia [HPO term]
- Anteriorly placed anus [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Clinodactyly [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Dental malocclusion [HPO term]
- Downturned corners of mouth [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Gray matter heterotopia [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Irregular dentition [HPO term]
- Joint laxity [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Narrow forehead [HPO term]
- Osteopenia [HPO term]
- Pachygyria [HPO term]
- Periventricular nodular heterotopia [HPO term]
- Ptosis [HPO term]
- Renal hypoplasia [HPO term]
- Sacral dimple [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short 4th metacarpal [HPO term]
- Short clavicles [HPO term]
- Short fourth metatarsal [HPO term]
- Short palpebral fissure [HPO term]
- Simplified gyral pattern [HPO term]
- Skeletal dysplasia [HPO term]
- Subcortical band heterotopia [HPO term]
- Talipes equinovarus [HPO term]
- Tented upper lip vermilion [HPO term]
- Tracheomalacia [HPO term]
- Wide anterior fontanel [HPO term]
- Wide cranial sutures [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Cerebrofacioarticular syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrofacioarticular syndrome [ORDO Disease]
- Van Maldergem Syndrome 1 [NCIt concept]
- Van Maldergem Wetzburger Verloes syndrome [MeSH concept]
- Van Maldergem syndrome [DO Concept]
- Van Maldergem syndrome 1 [DO Concept]
- van maldergem wetzburger verloes syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Cerebrofacioarticular syndrome (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients