Living with Fibrochondrogenesis
A very severe bone growth disorder with a very narrow chest, short limbs, and distinctive facial features, present from birth.
Understanding Fibrochondrogenesis
Babies have a very narrow chest, which keeps the lungs from developing normally. They have short stature, shortened arm and leg bones that are wide at the ends, short wide ribs, and flattened spine bones. Facial features include prominent eyes, low-set ears, a small chin, and a flat midface. Those who live beyond infancy often have vision problems and hearing loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very narrow chest
- Breathing problems
- Short, wide-ended arm and leg bones
- Flattened, pear-shaped spine bones
- Cleft palate
- Hearing loss
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.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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 cause it. GARD says it can be inherited in an autosomal dominant or autosomal recessive way, and doesn't name a gene.
Patient organizations
- Little People of AmericaFibrochondrogenesis · United States
You are more than your diagnosis
Perspectives from people navigating life with Fibrochondrogenesis.
Explore research for Fibrochondrogenesis
Explore actively recruiting Fibrochondrogenesis studies with HealthSpark.
Find actively recruiting studies for Fibrochondrogenesis 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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