Living with Chondrodysplasia Blomstrand type
A very rare bone growth condition present before or at birth, with advanced bone maturity and very short limbs.
Understanding Chondrodysplasia Blomstrand type
Bones appear to mature earlier than expected, and limbs are very short. GARD lists onset during pregnancy and at birth. It also lists features such as bowed long bones, a belly that sticks out, and extra amniotic fluid during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short limbs
- Bone age that is more advanced than expected
- Bowing of the long bones
- Belly that sticks out
- Bulging eyes
- 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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PTH1R 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); Eye disease specialists (ophthalmologists); 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
GARD says changes in the PTH1R gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: blc; blomstrand chondrodysplasia; blomstrand lethal chondrodysplasia; blomstrand osteochondrodysplasia; blomstrand type chondrodysplasia; bocd
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 Chondrodysplasia Blomstrand type.
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