Living with Acromesomelic dysplasia 3
A rare inherited bone and growth condition with short limbs and very underdeveloped fingers and toes, sometimes with ovary differences.
Understanding Acromesomelic dysplasia 3
People have short stature and short arms and legs, with especially severe differences in the hands and feet, including very underdeveloped fingers and toes. When genital differences are present, they can include missing ovaries, an underdeveloped uterus, high levels of certain reproductive hormones, and no periods.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Disproportionately short limbs and stature
- Very short fingers and toes
- Missing calf bone
- Fused wrist and ankle bones
- No periods (primary amenorrhea)
- Low sex hormone function (hypogonadism)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 describes this as autosomal recessive, so a child inherits a changed copy of the gene from each parent. It doesn't list a specific gene in this record.
Also known as: acromesomelic dysplasia, demirhan type; amd3; amdd; chondrodysplasia, acromesomelic, with or without genital anomalies
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 Acromesomelic dysplasia 3.
Explore research for Acromesomelic dysplasia 3
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