Disease Information for Juberg Marsidi Genetic syndrome (unco)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Facies particular
Wide Nasal Bridge
Genital Hypoplasia/Male
Penis, small (Micropenis)
Poor weight gain/child
Hypotonia
Muscle weakness
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Mental Deficiency Child
Slow Motor Development
Dysmorphic dwarfism/short stature
Dysmorphic appearance/face
Growth/development delay
Short stature
Short stature Child
Weakness
Typical Clinical Presentation
Presentation/Mental retarded/growth delay/deaf/X-linked
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Mental retardation
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Children/all
Population/Infant
Population/Infant male
Population/Male
Population/Male-only/limit
Population/Neonate-newborn
Associated Diseases & Rule outs
Associated Disease & Complications
Congenital eye disease/eye anomalies
Deafness
Deafness, congenital
Deafness, sensorineural
Facial dysplasia
Growth retardation/failure
Hypogenitalism/male
Juberg-Marsidi Retardation syndrome
Mental retardation
Microcephaly/oligophrenia
Microphallus deformity
Genital Hypoplasia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal Recessive Incomplete Penetrance
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Juberg Marsidi Genetic syndrome, Synonym/JMS Retardation/deafness, Synonym/Juberg-Marsidi mental retardation 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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External Links Related to Juberg Marsidi Genetic syndrome (unco)
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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