Living with Microphthalmia microtia fetal akinesia
A rare, serious condition that begins before birth, with less fetal movement, small eyes and ears, and heart defects.
Understanding Microphthalmia microtia fetal akinesia
It is marked by decreased movement of the baby during pregnancy, underdeveloped eyes and ears, and heart defects. Babies may also have stiff joints and a smaller-than-usual penis. Other features can include a big forehead, small nose, small jaw, and bent fingers and toes. 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)
- Small ears (microtia)
- Stiff joints with limited movement
- Heart defect (patent ductus arteriosus)
- Small lower jaw (micrognathia)
- Fingers that stay bent (camptodactyly)
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 bone and joint 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 condition. GARD does not list the specific gene.
Also known as: microphthalmia-microtia-fetal akinesia syndrome; microphthalmia, microtia, fetal akinesia syndrome; thomas jewett raines syndrome; thomas-jewett-raines 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 Microphthalmia microtia fetal akinesia.
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