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Other Names for this Disease
- Facial dysmorphism - intellectual deficit - short stature - hearing loss
- Growth mental deficiency syndrome of Myhre
- LAPS syndrome
- Laryngotracheal stenosis, arthropathy, prognathism, and short stature
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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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an 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.