Living with Anauxetic dysplasia
A condition with extremely short height, joint hypermobility, dental problems, and distinct facial features, starting before birth.
Understanding Anauxetic dysplasia
People also have unusually flexible joints, dental problems, distinctive facial features, and sometimes mild intellectual disability. Short stature begins before birth, with limbs that are short for height. The bones at the top of the spine can slip out of place, which can press on the spinal cord and cause pain, tingling, numbness, coordination problems, or weakness. Other bone differences include a barrel-shaped chest and a rounded, curved upper back.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. The summary says features include:
- Extremely short height
- Very flexible joints (hypermobility)
- Dental problems
- Distinctive facial features
- Slipped bones at the top of the spine
- Rounded and curved upper back (kyphoscoliosis)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 lists autosomal recessive inheritance, so a child inherits a changed copy of a gene from each parent. It doesn't name a gene.
Also known as: anauxetic dysplasia type 1; spondyloepimetaphyseal dysplasia anauxetic type; spondyloepimetaphyseal dysplasia menger type; spondyloepimetaphyseal dysplasia, anauxetic type; spondyloepimetaphyseal dysplasia, menger type; spondylometaepiphyseal dysplasia, menger type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Anauxetic dysplasia.
Explore research for Anauxetic dysplasia
Explore actively recruiting Anauxetic dysplasia studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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