Living with Atelosteogenesis type III
A rare genetic bone condition present from birth with very short limbs, dislocated joints, and breathing problems.
Understanding Atelosteogenesis type III
Babies are born with clubfeet and dislocated hips, knees, and elbows. Arms and legs are very short, and hands and feet are wide, sometimes with bent or fused fingers and toes. Faces have a broad forehead and wide-set eyes, and about half have a cleft palate. The small rib cage affects the lungs. Airway weakness can cause breathing pauses and infections. Learning and language delays and slower motor skills (like standing and walking) can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short arms and legs
- Clubfeet
- Dislocated hips, knees, and elbows
- Trouble breathing (respiratory insufficiency)
- Short bones of the hands
- Underdeveloped spine bones
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, brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in FLNB 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 and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America, World Craniofacial Foundation
- 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 and other patient organizations
- 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 FLNB gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: ao3; aoiii; atelosteogenesis type 3
Patient organizations
- Little People of AmericaAtelosteogenesis type III · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Atelosteogenesis type III.
Explore research for Atelosteogenesis type III
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