Living with Acromicric dysplasia
An inherited bone condition with short height, short limbs, stiff joints, and distinct facial features, with normal intelligence.
Understanding Acromicric dysplasia
Newborns are of normal size, but slow growth over time leads to short stature. Average adult height is about 4 feet 2 inches for women and 4 feet 5 inches for men. Carpal tunnel syndrome and hip dysplasia can occur. Most people have few limitations in their activities. Children may have a round face, long eyelashes, and a bulbous nose, and these facial differences become less obvious in adulthood. Intelligence is unaffected. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Short fingers and toes
- Small hands
- Round face
- Long eyelashes
- Bulbous nose with upturned nostrils
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.
- 3Consider genetic testing
Changes in FBN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 Human Growth Foundation
- 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
Changes in the FBN1 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: acmicd; acromicric skeletal dysplasia
Patient organizations
- Human Growth FoundationAcromicric dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Acromicric dysplasia.
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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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