Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development

Preferred Label : Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development;

Symbol : MCLMR;

CISMeF acronym : MCLMR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mlcrd syndrome; Cdmmr syndrome; Lymphedema and retinal folds with microcephaly and microphthalmos; Lymphedema, microcephaly, chorioretinopathy syndrome; Microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant; Microcephaly, lymphedema, chorioretinal dysplasia syndrome; Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation;

Description : Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). - Genetic Heterogeneity of Microcephaly and Chorioretinopathy An autosomal recessive form of microcephaly with chorioretinopathy (251270) is caused by mutation in the TUBGCP6 gene (610053) on chromosome 22q. See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; 268050), which has been mapped to chromosome 8q21.3-q22.1. A patient with microcephaly, congenital retinal fold, mental retardation, and lymphedema who had a pericentric inversion of chromosome 6 resulting in haploinsufficiency of the CDK19 gene (614720) has been reported.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the kinesin family member 11 gene (KIF11, 148760.0001);

Prefixed ID : #152950;

Details

Origin ID

152950;

UMLS CUI

C1835265;

Currated CISMeF NLP mapping
- Lymphedema, microcephaly and chorioretinopathy syndrome [MeSH concept]
- Microcephaly-lymphedema-chorioretinopathy syndrome [ORDO Disease]
- lymphedema, microcephaly and chorioretinopathy syndrome [MeSH Supplementary Concept]
- microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [DO Concept]
DO Cross reference
- microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [DO Concept]
Genes related to phenotype
- Kinesin family member 11 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Agitation [HPO term]
- Anteverted nares [HPO term]
- Astigmatism [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad nasal tip [HPO term]
- Cataract [HPO term]
- Chorioretinal dysplasia [HPO term]
- Chorioretinal lacunae [HPO term]
- Corneal opacity [HPO term]
- Deep philtrum [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Flat occiput [HPO term]
- Flattened nasal bridge [HPO term]
- Full lips [HPO term]
- Hypermetropia [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability, mild [HPO term]
- Long philtrum [HPO term]
- Lymphedema [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Myopia [HPO term]
- Myopic astigmatism [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Prominent ears [HPO term]
- Prominent forehead [HPO term]
- Prominent philtrum [HPO term]
- Protruding ear [HPO term]
- Reduced visual acuity [HPO term]
- Retinal detachment [HPO term]
- Retinal fold [HPO term]
- Seizure [HPO term]
- Simplified gyral pattern [HPO term]
- Sleep disturbance [HPO term]
- Sloping forehead [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Microcephaly-lymphedema-chorioretinopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lymphedema, microcephaly and chorioretinopathy syndrome [MeSH concept]
- Microcephaly-lymphedema-chorioretinopathy syndrome [ORDO Disease]
- lymphedema, microcephaly and chorioretinopathy syndrome [MeSH Supplementary Concept]
- microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [DO Concept]

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