Disease Information for Juberg Marsidi Genetic syndrome (unco)

Synonyms:

Juberg Marsidi Genetic syndrome

Definition:

Juberg Marsidi Syndrome; JMS; Juberg-Marsidi Mental Retardation Syndrome; Mental Retardation, X-linked with Growth Delay, Deafness; Microgenitalism; Juberg-Marsidi syndrome is an extremely rare X-linked inherited 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 ( 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 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 genetic trait but spontaneous mutation occurs; ----------(NORD 2005)---------------------

Juberg-Marsidi syndrome; Carpenter-Waziri syndrome;

Mental retardation, X linked, Juberg-Marsidi type;

Smith-Fineman-Myers syndrome; Juberg and Marsidi syndrome is an X-linked recessive condition characterized by severe mental retardation with growth failure, sensorineural deafness, microgenitalism, and early death; Clinically, it shares some characteristics with X-linked alpha-thalassemia/mental retardation syndrome and there is evidence that the Juberg-Marsidi syndrome and the X-linked alpha-thalassemia/mental retardation syndrome are allelic disorders, due to mutations in the ATRX gene, mapped to Xq12-q21; Male patients present with deafness, flat nasal bridge, severe ocular abnormalities, micropenis and rudimentary scrotum with cryptorchidism; Growth is retarded, with delayed bone age and spasticity, sometimes epilepsy; Some heterozygous women have subnormal intelligence and microcephaly; *Author : Dr E. Robert-Gnansia (April 2003)*;

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