Living with Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
A rare genetic condition with severe developmental delay, small head size, cataracts from birth and a birthmark on the forehead.
Understanding Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Children have severe global developmental delay, slow growth and eye differences. Most also have heart, urinary and genital, or bone differences, and seizures. Facial features include sparse hair, downslanting eyes and wide-set eyes. It is seen before birth, at birth and in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe developmental delay and intellectual disability
- Small head size (microcephaly)
- Cataract from birth
- Port-wine stain on the forehead
- Seizures
- Low muscle tone and no speech
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 and genetic specialists.
- 3Consider genetic testing
Changes in MED25 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)
- 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 rare disease patient organizations for support
- 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
Changes in the MED25 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: basel vanagaite smirin yosef syndrome; basel-vanagait-smirin-yosef syndrome; basel-vanagaite-smirin-yosef syndrome
Patient organizations
Rare-disease groups that can help
- 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 Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome.
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