Living with Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
A rare inherited condition that can cause a small head, eye problems, swelling in the legs, and mild to moderate learning challenges.
Understanding Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MCLID varies a lot from person to person. Features can include a small head (microcephaly), eye problems such as changes in the retina, swelling of the legs from lymph fluid (lymphedema) present from birth, and mild to moderate intellectual disability. It is autosomal dominant, and signs are seen in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Nearsightedness (myopia) and other vision problems
- Swelling from extra lymph fluid (lymphedema)
- Changes in the pigment of the retina
- Delays in reaching developmental milestones
- Learning disability or intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in KIF11 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the KIF11 gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: kif11-associated disorder; lymphedema and retinal folds with ficrocephaly and microphthalmos; lymphedema, microcephaly and chorioretinopathy syndrome; lymphedema, microcephaly, chorioretinopathy syndrome; microcephaly lymphedema chorioretinal dysplasia; microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability.
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