Other Names for this Disease
- Facial dysmorphism - intellectual deficit - short stature - hearing loss
- Laryngotracheal stenosis, arthropathy, prognathism, and short stature
- LAPS syndrome
- Growth mental deficiency syndrome of Myhre
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intellectual disability, short stature, unusual facial features, and various bone (skeletal) abnormalities. Other findings may include hearing impairment, abnormal enlargement of the muscles (muscle hypertrophy), and/or joint stiffness. Myhre syndrome is caused by mutations in the SMAD4 gene. This condition is inherited in an autosomal dominant pattern. Most cases are due to a new mutation.Myhre syndrome is a rare inherited disorder characterized by
Last updated: 3/17/2014
- Myhre Syndrome. National Organization for Rare Disorders (NORD). 2004; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1075/viewAbstract. Accessed 3/17/2014.
- Myhre syndrome. Genetics Home Reference (GHR). Januray 2013; http://ghr.nlm.nih.gov/condition/myhre-syndrome. Accessed 3/17/2014.
- Genetics Home Reference (GHR) contains information on Myhre syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Myhre syndrome. Click on the link to view a sample search on this topic.