microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

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Disease Overview

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.


Synonyms

  • Cdmmr syndrome
  • MCLMR
  • MLCRD
  • Mlcrd syndrome
  • chorioretinal dysplasia-microcephaly-intellectual disability syndrome
  • chorioretinal dysplasia-microcephaly-mental retardation syndrome
  • lymphedema and retinal Folds with microcephaly and microphthalmos
  • lymphedema and retinal folds with ficrocephaly and microphthalmos
  • lymphedema, microcephaly and chorioretinopathy syndrome
  • lymphedema, microcephaly, chorioretinopathy syndrome
  • microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant
  • microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant
  • microcephaly lymphedema chorioretinal dysplasia
  • microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
  • microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
  • microcephaly, lymphedema, chorioretinal dysplasia syndrome
  • microcephaly-lymphedema-chorioretinopathy syndrome

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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National Organization for Rare Disorders