Van maldergem syndrome 2

Preferred Label : Van maldergem syndrome 2;

Symbol : VMLDS2;

CISMeF synonym : Syndrome cérébrofacioarticulaire, type 2;

CISMeF acronym : VMLDS2;

Type : Phenotype, molecular basis known;

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). For a discussion of genetic heterogeneity of Van Maldergem syndrome, see 601390.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the FAT atypical cadherin 4 gene (FAT4, 612411.0001);

Prefixed ID : #615546;

Details

Origin ID

615546;

UMLS CUI

C3809875;

Automatic exact mappings (from CISMeF team)
- FAT4 wt Allele [NCIt concept]
- Van Maldergem Syndrome 2 [NCIt concept]
Currated CISMeF NLP mapping
- Van Maldergem Syndrome 2 [NCIt concept]
- Van Maldergem syndrome 2 [DO Concept]
DO Cross reference
- Van Maldergem syndrome 2 [DO Concept]
Genes related to phenotype
- Fat atypical cadherin 4 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the hand [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid scrotum [HPO term]
- Blepharophimosis [HPO term]
- Clinodactyly [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [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]
- Micropenis [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Narrow forehead [HPO term]
- Osteopenia [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]
- 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]
See also inter- (CISMeF)
- Van Maldergem syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Van Maldergem Syndrome 2 [NCIt concept]

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