Living with Microphthalmia with limb anomalies
A genetic condition (ophthalmo-acromelic syndrome) with missing or small eyes and differences in the hands and feet.
Understanding Microphthalmia with limb anomalies
The eyes are often missing or very underdeveloped (anophthalmia) or small (microphthalmia). The most common hand and foot difference is missing fingers or toes. Fused or extra fingers or toes can also occur. Some people have unusual facial features, a cleft lip with or without a cleft palate, or intellectual disability. 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:
- Small eyeballs (microphthalmia) or missing eyeballs
- Missing fingers or toes
- Fused or extra fingers or toes
- Cleft upper lip
- Differences in the long bones or spine
- Severe 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.
- 3Consider genetic testing
Changes in SMOC1 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
This condition is caused by changes in the SMOC1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: anophthalmia-syndactyly; anophthalmia-syndactyly syndrome; anophthalmia-waardenburg syndrome; anophthalmos with limb anomalies; anophthalmos-limb anomalies syndrome; microphthalmia and limb anomalies
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 Microphthalmia with limb anomalies.
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