Living with Schneckenbecken dysplasia
A rare genetic bone condition identified before birth that affects the pelvis, spine, ribs, and limbs.
Understanding Schneckenbecken dysplasia
It is a type of spondylodysplastic dysplasia, meaning it affects the spine and other bones. It is noticed during pregnancy. Bone differences include a snail-shaped pelvis, short ribs, and short limbs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short ribs and narrow chest
- Short limbs
- Underdeveloped back bones
- Small pelvic bones (hypoplastic ilia)
- Large head size
- Extra amniotic fluid in pregnancy (polyhydramnios)
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 SLC35D1 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 SLC35D1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: chondrodysplasia with snail-like pelvis; slc35d1-cdg
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 Schneckenbecken dysplasia.
Explore research for Schneckenbecken dysplasia
Explore actively recruiting Schneckenbecken dysplasia studies with HealthSpark.
Find actively recruiting studies for Schneckenbecken dysplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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