Symptoms
Because an individual is born with Juberg-Marsidi syndrome, its symptoms are usually apparent at birth or shortly after. Symptoms may include:
- severe mental retardation
- difficulty growing and developing, delays in reaching developmental milestones such as crawling
- abnormally small head (microcephaly)
- characteristic facial features such as small triangular nose, epicanthic skin folds over the eyes, flat nasal bridge, large protruding tongue, abnormal teeth
- low muscle tone (hypotonia)
- underdevelopment of the genitals (microgenitalism)
- sensorineural deafness
Diagnosis
Usually the symptoms the male infant has, especially the distinctive facial features, suggest the diagnosis of Juberg-Marsidi syndrome. Genetic testing can confirm that the infant has the gene for the disorder. Tests may be done to rule out the presence of other disorders with similar symptoms.
Treatment
There is no cure for Juberg-Marsidi syndrome, so treatment focuses on the symptoms of the disorder. Special nutrition or feeding methods, as well as physical therapy, may be needed to help the infant grow and develop. Treatment will focus on helping the child reach his or her developmental potential.
Sources:
- "Juberg-Marsidi Syndrome." Index of Rare Diseases. 19 Mar 2007. National Organization for Rare Disorders. 22 Mar 2007 <http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Juberg-Marsidi%20Syndrome>.
- "Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes." United States National Library of Medicine. 27 Oct 1999. National Institutes of Health. 22 Mar 2007 <http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome376.html>.
- "Mental retardation, X-linked - hypotonic face." Rare Diseases. Mar 2006. OrphaNet. 22 Mar 2007 <http://www.orpha.net/consor/cgi-bin/data.php?ActType=Pat&Form=Pat&PatId=11034.0>.
