Living with Acromesomelic dysplasia 1, Maroteaux type
A rare inherited bone condition with severe short stature and short limbs, with normal face and intelligence.
Understanding Acromesomelic dysplasia 1, Maroteaux type
Adult height is under 120 cm. The middle and end parts of the arms and legs are short, and the spine bones are shortened. Facial appearance and intelligence are normal. It is less severe than the Grebe and Hunter-Thomson types. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Short middle and end parts of the limbs
- Short fingers and toes
- Curving of the spine (scoliosis, kyphosis)
- Bowed long bones
- Joint stiffness
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 NPR2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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
- 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 NPR2 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acromesomelic dysplasia 1; acromesomelic dysplasia maroteaux type; acromesomelic dysplasia, maroteaux type; amd1; st. helena dysplasia
Patient organizations
- Little People of AmericaAcromesomelic dysplasia 1, Maroteaux type · United States
You are more than your diagnosis
Perspectives from people navigating life with Acromesomelic dysplasia 1, Maroteaux type.
Explore research for Acromesomelic dysplasia 1, Maroteaux type
Explore actively recruiting Acromesomelic dysplasia 1, Maroteaux type studies with HealthSpark.
Find actively recruiting studies for Acromesomelic dysplasia 1, Maroteaux type 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 Acromesomelic dysplasia 1, Maroteaux type 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 Acromesomelic dysplasia 1, Maroteaux type
Stay in the loop with community stories and updates from medical researchers.
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 Acromesomelic dysplasia 1, Maroteaux type experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.