Living with Atelosteogenesis type II
A severe genetic bone and cartilage condition present from birth with very short limbs, a narrow chest, and cleft palate.
Understanding Atelosteogenesis type II
Babies have very short arms and legs, a narrow chest, and a round, prominent belly. Other features include cleft palate, distinctive facial features, clubfoot, and thumbs that stick out (hitchhiker thumbs). It is similar to diastrophic dysplasia but is typically more severe. GARD notes some infants have been helped with intensive medical support.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short upper arms and legs
- Narrow chest
- Cleft palate
- Clubfoot
- Hitchhiker thumbs
- 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, brain and nervous system specialists, ear, nose, and throat 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 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 SLC26A2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ao2; aoii; atelosteogenesis de la chapelle type; atelosteogenesis type 2; neonatal osseous dysplasia 1; neonatal osseous dysplasia i
Patient organizations
- Little People of AmericaAtelosteogenesis type II · 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 II.
Explore research for Atelosteogenesis type II
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