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Copyright 1996, 1997, 2004, 2006
Synonyms of Juberg-Marsidi Syndrome
- JMS
- Juberg-Marsidi Mental Retardation Syndrome
- Mental Retradation, X-linked with Growth Delay, Deafness, Microgenitalism
Disorder Subdivisions
General Discussion
Juberg-Marsidi syndrome is an extremely rare X-linked genetic disorder that is fully expressed in males only, and is apparent at birth (congenital) or during the first few weeks of life (neonatal period). Affected children exhibit severe mental retardation; delays in reaching developmental milestones (e.g., crawling, walking, etc.); muscle weakness; diminished muscle tone (hypotonia); and/or delayed bone growth as well as growth retardation, resulting in short stature.
Affected infants also exhibit hearing loss; underdevelopment of the genitals (microgenitalism); and/or abnormalities of the head and facial (craniofacial) area such as an abnormally small head (microcephaly), a flat (depressed) nasal bridge, eye (ocular) abnormalities, and/or, in some cases, additional physical abnormalities. The range and severity of symptoms may vary from case to case. Juberg-Marsidi syndrome is inherited as an X-linked recessive trait.
Organizations related to Juberg-Marsidi Syndrome
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- National Institute of Mental Retardation
York University
Kinsmen NIMR Building
4700 Keele Street
North York, Toronto
Ontario None M3J 1P3
Phone #: 416-661-9611
800 #: --
e-mail: N/A
Home page: N/A
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