Lymphedema, microcephaly and chorioretinopathy syndrome

Title

Other Names:

Microcephaly lymphedema chorioretinal dysplasia; Chorioretinal dysplasia-microcephaly-mental retardation syndrome

Categories:

Congenital and Genetic Diseases

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
5%-29% of people have these symptoms
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Agitation		0000713
Chorioretinal lacunae		0007858
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Optic atrophy		0000648
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Percent of people who have these symptoms is not available through HPO
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Autosomal dominant inheritance		0000006
Broad nasal tip	Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ]	0000455
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Chorioretinal dysplasia		0007731
Corneal opacity		0007957
Deep philtrum		0002002
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Flat occiput		0005469
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Incomplete penetrance		0003829
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Long philtrum		0000343
Lymphedema	Swelling caused by excess lymph fluid under skin	0001004
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Microcornea	Cornea of eye less than 10mm in diameter	0000482
Microphthalmia	Abnormally small eyeball	0000568
Myopic astigmatism		0500041
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Reduced visual acuity	Decreased clarity of vision	0007663
Retinal detachment	Detached retina	0000541
Retinal fold		0008052
Seizures	Seizure	0001250
Simplified gyral pattern		0009879
Sloping forehead	Inclined forehead Receding forehead [ more ]	0000340
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
Thin upper lip vermilion	Thin upper lip	0000219
Variable expressivity		0003828

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2019

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
PubMed is a searchable database of medical literature and lists journal articles that discuss Lymphedema, microcephaly and chorioretinopathy syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

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