
Living with Fetal akinesia deformation sequence
A group of problems that result from a baby moving too little before birth, including stiff joints, slow growth and underdeveloped lungs.
Understanding Fetal akinesia deformation sequence
It includes slow growth in the womb (IUGR), many stiff joints (arthrogryposis), differences in facial features, and underdeveloped lungs. Experts generally view it as a description of problems that result from fetal akinesia, rather than one specific syndrome.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Less movement before birth
- Slow growth in the womb
- Stiff joints (arthrogryposis)
- Differences in facial features
- Underdeveloped lungs
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.
- 4Connect with expert centers
Arthrogryposis Multiplex Congenita Support Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Arthrogryposis Multiplex Congenita Support Inc.
- 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 Arthrogryposis Multiplex Congenita Support Inc.
- 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
In some cases it is inherited in an autosomal recessive way and can be caused by changes in the RAPSN or DOK7 genes.
Also known as: arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; fads
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Fetal akinesia deformation sequence · United States
You are more than your diagnosis
Perspectives from people navigating life with Fetal akinesia deformation sequence.
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