Living with Fetal akinesia syndrome, X-linked
A rare genetic condition mostly in males that affects a baby's movement and development before birth.
Understanding Fetal akinesia syndrome, X-linked
It mostly affects males. It can cause too much amniotic fluid around the baby and reduced movement. Brain development and facial features can also be severely affected.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Reduced movement before birth
- Too much amniotic fluid
- Differences in brain development
- Differences in facial features
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
It is caused by a change in one gene on the X chromosome. It is X-linked.
Also known as: polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures; x-linked form of fetal akinesia 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 Fetal akinesia syndrome, X-linked.
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