Living with Microcephaly-microcornea syndrome, Seemanova type
A rare X-linked syndrome with a small head, small eyes, cataracts, severe intellectual disability, and slow growth.
Understanding Microcephaly-microcornea syndrome, Seemanova type
People have a small head (microcephaly), eye differences such as small eyeballs, small corneas, and cataracts from birth, severe intellectual disability, and slow growth. Muscle stiffness gets worse over time. GARD says it has been described in two people, a man and his sister's son. It is passed down as an X-linked trait.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Small eyeballs (microphthalmia) and small corneas
- Clouding of the eye lens (cataract)
- Severe intellectual disability
- Muscle stiffness that worsens over time (spasticity)
- Short stature and slow growth
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
Changes in genes (also called variants) cause this syndrome, and it is passed down as an X-linked trait. GARD does not list the specific gene.
Also known as: microcephalus microcornea syndrome of seemanova type; microcephaly microcornea syndrome seemanova type; seemanova lesny syndrome; seemanova-lesny syndrome; x-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity
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 Microcephaly-microcornea syndrome, Seemanova type.
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