Skip to content
knowrare
HealthSignal
Your condition community

Living with Atelosteogenesis type I

A rare genetic bone condition present from birth with very short arms and legs and a small chest.

Get Signals Ask Anything

Understanding Atelosteogenesis type I

Atelosteogenesis type I is a rare disorder that affects how bones develop throughout the body.

Babies are born with clubfeet and dislocated hips, knees, and elbows. Bones of the spine, ribs, pelvis, and limbs may be underdeveloped or missing, so arms and legs are very short. The face has a prominent forehead, wide-set eyes, and a very small lower jaw. Some have a cleft palate. The small rib cage affects how the lungs develop and work.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Very short arms and legs
  • Clubfeet
  • Small, narrow chest
  • Underdeveloped lungs
  • Underdeveloped spine bones
  • Short fingers and toes

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include bone and joint specialists, ear, nose, and throat specialists and genetic specialists.

  3. Consider 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.

  4. Connect 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); 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
Bring these questions to your next doctor visit
Would FLNB testing explain the cause and the chance of this happening again?
Which specialists should be involved in my baby's care?
What can be done about breathing support?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn
InheritanceAutosomal Dominant
GenesFLNB

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.

Genetic

Also known as: ao1; aoi; atelosteogenesis type 1; giant cell chondrodysplasia; spondylo-humero-femoral dysplasia; spondylohumerofemoral hypoplasia

Patient organizations

Source: NIH GARD · Atelosteogenesis type IGARD ID 9287 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Atelosteogenesis type I.

Explore the Atelosteogenesis type I blog
Broader resource

9 Things to Know After Diagnosis

Read article
Broader resource

The Invisible Job: What Caregiving for a Rare Disease Really Looks Like

Read article
Broader resource

Embrace the Ask: How to Seek The Support You Need

Read article
Your experience could help someone else.

Share your story with our editorial team.

Share your story You choose what to share.

Explore research for Atelosteogenesis type I

Explore actively recruiting Atelosteogenesis type I studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Atelosteogenesis type I 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

Powered by HealthSpark, our AI chat helper

I can help you find recruiting Atelosteogenesis type I studies. Enter a ZIP code, address or city below and I'll look within 50 miles.

Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

Get Signals for Atelosteogenesis type I

Stay in the loop with community stories and updates from medical researchers.

HealthStoryfor Atelosteogenesis type I

Create a living journal that talks back

HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Atelosteogenesis type I experiences more deeply and prepare for better conversations with your doctors and care team.

Start your journal

Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.