Overview
Atelosteogenesis type III (AO3) is a very rare and severe bone development disorder that affects how the skeleton forms before birth. The name comes from Greek words meaning 'incomplete bone formation.' It is also sometimes called atelosteogenesis type 3. In this condition, many bones in the body do not develop properly, leading to very short limbs, an unusually small chest, and problems with the spine and joints. The bones may be partially missing or poorly formed, especially in the arms and legs. Babies born with AO3 typically have extremely short arms and legs, a narrow chest that makes breathing very difficult, and dislocated joints at the knees, hips, and elbows. The face may also look different, with a flat nasal bridge and a small jaw. Because the chest is so small, the lungs often cannot grow large enough to support breathing after birth, which makes this condition life-threatening in the newborn period. There is currently no cure for AO3. Treatment focuses on supporting breathing and managing complications. Because of the severe breathing problems caused by the small chest, most affected babies do not survive beyond the newborn period. Care is largely provided by a team of specialists focused on comfort and support for both the baby and the family.
Also known as:
Key symptoms:
Extremely short arms and legsVery narrow, small chestSevere breathing difficulties at birthDislocated joints, especially knees, hips, and elbowsUnderdeveloped or missing bones in the hands and feetFlat nasal bridgeSmall jaw (micrognathia)Abnormal spine development (scoliosis or other spinal problems)Short stature overallClubfoot or other foot deformitiesSoft, unstable joints
Clinical phenotype terms (27)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Atelosteogenesis type III.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Atelosteogenesis type III at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Atelosteogenesis type III.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Atelosteogenesis type III.
Community
No community posts yet. Be the first to share your experience with Atelosteogenesis type III.
Start the conversation →Latest news about Atelosteogenesis type III
No recent news articles for Atelosteogenesis type III.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What does my baby's specific genetic test result mean for their prognosis?,What breathing support options are available, and what are the realistic outcomes of each?,What is the chance that a future pregnancy would be affected by AO3?,Can prenatal testing detect AO3 in a future pregnancy?,What palliative care and family support services are available to us?,Are there any clinical trials or research studies we should know about?,Can you connect us with other families who have been through this?
Common questions about Atelosteogenesis type III
What is Atelosteogenesis type III?
Atelosteogenesis type III (AO3) is a very rare and severe bone development disorder that affects how the skeleton forms before birth. The name comes from Greek words meaning 'incomplete bone formation.' It is also sometimes called atelosteogenesis type 3. In this condition, many bones in the body do not develop properly, leading to very short limbs, an unusually small chest, and problems with the spine and joints. The bones may be partially missing or poorly formed, especially in the arms and legs. Babies born with AO3 typically have extremely short arms and legs, a narrow chest that makes br
How is Atelosteogenesis type III inherited?
Atelosteogenesis type III follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Atelosteogenesis type III typically begin?
Typical onset of Atelosteogenesis type III is neonatal. Age of onset can vary across affected individuals.