Living with Myhre syndrome
A rare condition affecting connective tissue, with short height, stiff joints, hearing loss, and scarring in skin and organs.
Understanding Myhre syndrome
It affects many parts of the body, though not everyone has every feature. Common features include short height, bone differences, limited joint movement, distinct facial features, intellectual and behavioral differences, and hearing loss. Scar tissue (fibrosis) can build up in the skin and organs, and there can be heart and lung differences. Growth is reduced, starting before birth. Some features become more noticeable with age.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Joint stiffness
- Hearing loss
- Intellectual disability
- Delayed development
- High blood pressure
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SMAD4 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
Myhre Syndrome Foundation and Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Myhre Syndrome Foundation, 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 Myhre Syndrome Foundation and other patient organizations
- 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 changes in the SMAD4 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: facial dysmorphism-intellectual disability-short stature-deafness syndrome; facial dysmorphism-intellectual disability-short stature-hearing loss syndrome; facial dysmorphism, intellectual deficit, short stature and hearing loss; laps syndrome; laryngotracheal stenosis, arthropathy, prognathism and short stature; laryngotracheal stenosis, arthropathy, prognathism, and short stature
Patient organizations
- Myhre Syndrome FoundationMyhre syndrome · United States
- Little People of AmericaMyhre syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Myhre syndrome.
Explore research for Myhre syndrome
Explore actively recruiting Myhre syndrome studies with HealthSpark.
Find actively recruiting studies for Myhre syndrome 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
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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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