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Juberg-Marsidi Syndrome

Abstract

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Synonyms of Juberg-Marsidi Syndrome

JMS
Juberg-Marsidi Mental Retardation Syndrome
Mental Retradation, X-linked with Growth Delay, Deafness, Microgenitalism

Disorder Subdivisions

No subdivisions found.

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

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., mental retardation, short stature, hearing impairment, etc.].)

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