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Bookmark or Share- Handbook - Myhre Syndrome FoundationWe have created a handbook that guides you through. What Is Myhre Syndrome? How Is It Diagnosed & What Do The Genetics Mean? This handbook is available in English, Spanish, French, Italian, German and Dutch. Click the links below to download.
- What is Myhre Syndrome?Myhre syndrome is an extremely rare genetic disorder, caused by a mutation in the SMAD4 gene. In Myhre Syndrome this mutation is referred to as a de novo mutation because it happens by chance. It is not caused by anything a parent did or didn’t do.
- Myhre syndrome - MedlinePlusMyhre syndrome is a rare condition that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features.
- Myhre Syndrome - Symptoms, Causes, Treatment | NORDMyhre syndrome is a rare, but increasingly diagnosed genetic disorder characterized by short stature, characteristic facial features, distinctive heart and aorta problems, mild to moderate intellectual disability, autism/autistic-like behavior, and various bone and joint abnormalities.
- Myhre syndrome | About the Disease | GARD - Genetic and Rare Diseases ...A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common. Summary.
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