Living with Autosomal recessive brachyolmia
An inherited bone condition that causes a short trunk, short height, and a curved spine.
Understanding Autosomal recessive brachyolmia
It is one of a group of rare skeletal disorders called brachyolmia. Features show up in childhood. Cloudy spots on the clear front of the eye (corneal opacities) and early calcium buildup in rib cartilage are rare. Early puberty hair growth may occur.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. The summary describes these features:
- Short trunk and short height
- Flattened spine bones (platyspondyly)
- Scoliosis (curved spine)
- Cloudy spots on the cornea (rare)
- Early puberty hair growth (may occur)
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 PAPSS2 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 PAPSS2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: brachyolmia hobaek/toledo type; brachyolmia, autosomal recessive; brachyolmia, hobaek/toledo 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 brachyolmia.
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