Living with MEHMO syndrome
A rare X-linked condition with intellectual disability, a small head, slow growth, and underdeveloped genitals.
Understanding MEHMO syndrome
It includes mild to profound intellectual disability, a small head (microcephaly), growth delay, and underdeveloped genitals. Weight gain, diabetes starting early in life, and seizures occur in some. It can start in pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Small head (microcephaly)
- Growth delay
- Seizures
- Obesity
- Low muscle tone
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, genetic specialists, hormone specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in EIF2S3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation, United Mitochondrial Disease Foundation, MitoAction
- 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 Epilepsy Foundation and other patient organizations
- 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 EIF2S3 gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome; intellectual disability, x-linked, syndromic 20; intellectual disability, x-linked, syndromic 25; intellectual disability, x-linked, syndromic, borck type; intellectual disability, x-linked, syndromic, borck type
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with MEHMO syndrome.
Explore research for MEHMO syndrome
Explore actively recruiting MEHMO syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- 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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