Living with Opsismodysplasia
A rare bone condition present at birth with short limbs, small hands and feet, and distinct facial features.
Understanding Opsismodysplasia
At birth, babies have short limbs, small hands and feet, a relatively large head with a large soft spot (fontanel), and facial features such as a prominent brow, a flat nose bridge, and a small, upturned nose. Children have a higher chance of respiratory infections and breathing problems. 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
- Large head (macrocephaly)
- Low muscle tone
- Repeated respiratory infections
- Breathing difficulty (respiratory insufficiency)
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 INPPL1 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 INPPL1 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: opsmd
Patient organizations
- Little People of AmericaOpsismodysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Opsismodysplasia.
Explore research for Opsismodysplasia
Explore actively recruiting Opsismodysplasia studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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