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Bookmark or Share- 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.
- Myhre Syndrome FoundationMyhre syndrome is an extremely rare genetic disorder, caused by a mutation in the SMAD4 gene. There are less than 200 confirmed cases of Myhre syndrome worldwide and true numbers are unknown. We hear of new cases each year as awareness grows.
- Myhre Syndrome - GeneReviews® - NCBI BookshelfMyhre syndrome is an autosomal dominant disorder typically caused by a de novo pathogenic variant. De novo SMAD4 pathogenic variants that have been evaluated for parent of origin to date have all been paternal and have been associated with advanced paternal age.
- 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.
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