Living with Lethal congenital contracture syndrome 3
A rare inherited condition with joint contractures, a small jaw, and muscle wasting in the legs.
Understanding Lethal congenital contracture syndrome 3
Features are multiple joint contractures (typically extended elbows and flexed knees), a small jaw, loss of nerve cells that move muscles, and muscle wasting mainly in the legs. Unlike type 2, the bladder is not enlarged.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes these features:
- Multiple joint contractures
- Extended elbows and flexed knees
- Small lower jaw (micrognathia)
- Muscle wasting in the lower limbs
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.
- 3Consider genetic testing
Changes in PIP5K1C 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
It is caused by changes in the PIP5K1C gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: israeli bedouin type b multiple contracture syndrome; lccs3; lethal congenital contractural syndrome 3; lethal congenital contracture syndrome caused by mutation in pip5k1c; lethal congenital contracture syndrome type 3; multiple contracture syndrome, israeli bedouin type b
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 Lethal congenital contracture syndrome 3.
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