Other Names for this Disease
- X-linked mental retardation Snyder-Robinson type
intellectual disability, muscle and bone abnormalities, and other problems with development. It only occurs in males. Affected individuals have delayed development that begins in early childhood. Speech difficulties are common. Low muscle tone (hypotonia) and muscle mass leads to difficulty walking and an unsteady gait. Other features include thinning of the bones (osteoporosis), an abnormal curvature of the spine (kyphoscoliosis), and unusual facial features including a prominent lower lip, cleft palate, and facial asymmetry. Snyder-Robinson syndrome is caused by mutations in the SMS gene and is inherited in an X-linked recessive fashion.Snyder-Robinson syndrome is an inherited condition that is characterized by
Last updated: 10/7/2015
- Snyder-Robinson syndrome. Genetics Home Reference (GHR). August 2013; http://ghr.nlm.nih.gov/condition/snyder-robinson-syndrome. Accessed 10/7/2015.
- Genetics Home Reference contains information on Snyder-Robinson syndrome. This website is maintained by the National Library of Medicine.
- 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 Snyder-Robinson syndrome. Click on the link to view a sample search on this topic.