The topic Mental Retardation, X-linked with Growth Delay, Deafness, Microgenitalism you are seeking is a synonym, or alternative name, or is closely related to the medical condition Juberg Marsidi Syndrome.

Quick Summary:

• Juberg Marsidi Syndrome (JMS) is an inherited genetic disorder caused by a mutation in the X chromosome. It is a very rare disorder
• Owing to the X-linked nature of transmission, Juberg Marsidi Syndrome only affects males. However, it has been reported that females with a single copy of the defective gene do exhibit some symptoms associated with the disorder
• The condition manifests at birth or becomes apparent in the first few weeks of the newborn’s life. JMS may be diagnosed by the characteristic facial features of the newborn and confirmation sought through genetic testing
• Having a family history of the disease is considered the greatest risk factor for Juberg Marsidi Syndrome. The cause of Juberg Marsidi Syndrome is reported to be a defect in a gene on the long arm of the X-chromosome. The recessive gene gets expressed in males owing to the presence of only one X-chromosome
• Thus, genetic counseling might help prospective parents with a family history of Juberg Marsidi Syndrome understand the disease and its potential implications when planning for a family
• The syndrome is characterized by abnormal facial features, small head, under-developed genitalia, delay in reaching developmental milestones, and a short stature. The complications of Juberg Marsidi Syndrome may include severe motor disabilities owing to low muscle tone and severe mental retardation
• The treatment measures might include physiotherapy to improve muscle tone, occupational therapy to allow a child reach his/her developmental milestone potential, and corrective surgery or lenses to improve vision
• Treatment for Juberg Marsidi Syndrome is generally supportive, to aid in relief of symptoms and let an individual lead as independent a life as possible. However, the symptoms of the disorder vary between individuals and the prognosis is dependent on the severity of the symptoms

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