Living with MMEP syndrome
A very rare syndrome with a small head, small eyes, a split foot, and a prominent lower jaw.
Understanding MMEP syndrome
MMEP stands for microcephaly, microphthalmia, ectrodactyly (split foot) of the lower limbs, and prognathism (a prominent lower jaw). Intellectual disability has been reported. GARD says the exact prevalence is unknown and the cause is not completely understood. Signs are seen during pregnancy or 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)
- Small eyeballs (microphthalmia)
- Split foot
- Prominent lower jaw
- Cleft upper lip
- 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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says the cause is not completely understood. A disruption of the SNX3 gene was shown to play a role, though recent studies did not confirm this. GARD lists the condition as autosomal dominant.
Also known as: mcops8; microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome; microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome; syndromic microphthalmia type 8; viljoen smart syndrome; viljoen-smart 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 MMEP syndrome.
Explore research for MMEP syndrome
Explore actively recruiting MMEP syndrome studies with HealthSpark.
Find actively recruiting studies for MMEP syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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