Living with Achondrogenesis, type IB
A severe condition that affects bone and cartilage growth, with extremely short arms and legs and a narrow chest.
Understanding Achondrogenesis, type IB
It is marked by extremely short limbs with short fingers and toes, and a narrow chest. The belly is rounded and swollen, and the body can look pale and puffy (hydropic) because of extra soft tissue. The face is flat, and the neck is short. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extremely short arms and legs
- Narrow chest
- Short fingers and toes
- Clubfoot
- Flat face and short neck
- Underdeveloped lungs
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 SLC26A2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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 the SLC26A2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acg1b; achondrogenesis fraccaro type; achondrogenesis ib; achondrogenesis type 1b; achondrogenesis type ib; achondrogenesis, parenti-fraccaro type
Patient organizations
- Little People of AmericaAchondrogenesis, type IB · United States
You are more than your diagnosis
Perspectives from people navigating life with Achondrogenesis, type IB.
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