Living with Pelvic dysplasia-arthrogryposis of lower limbs syndrome
A rare genetic bone condition with a small pelvis, stiff leg joints, and short height, present from birth.
Understanding Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Babies grow slowly before birth and have short height, stiff leg joints (contractures), weak leg muscles, and a narrow, small pelvis. The spine curves, and the feet have short, overlapping toes. The skull and upper limbs are normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small pelvis
- Stiff joints with limited movement
- Hip dislocation
- Muscle wasting (atrophy)
- Trouble walking
- Bluish-gray whites of the eyes
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 and genetic specialists.
- 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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
Changes in the genes (also called variants) cause this condition. GARD doesn't list a specific gene.
Also known as: pelvic hypoplasia with lower-limb arthrogryposis; ray-peterson-scott syndrome
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Pelvic dysplasia-arthrogryposis of lower limbs syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Pelvic dysplasia-arthrogryposis of lower limbs syndrome.
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