Living with Autosomal recessive spondyloepimetaphyseal dysplasia
A rare inherited bone condition with a short trunk, short arms, and joint problems.
Understanding Autosomal recessive spondyloepimetaphyseal dysplasia
It begins in childhood. It includes short arms, short and broad hands, flat and broad feet, a pigeon chest, and flattened spine bones. Hip and knee changes, arthritis, and joint pain can occur, with walking trouble that ranges from moderate to serious. GARD notes there has been no further description in the medical literature since 1981.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short trunk and short limbs
- Pigeon chest (pectus carinatum)
- Short, broad hands and feet
- Knock knees and hip changes
- Arthritis and joint pain
- Trouble walking
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.
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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of a gene from each parent.
Also known as: semd, irapa type; semdit; spondyloepimetaphyseal dysplasia irapa type; spondyloepimetaphyseal dysplasia, irapa type
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 Autosomal recessive spondyloepimetaphyseal dysplasia.
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