Juberg-Marsidi Syndrome, also known as JMS, is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and other developmental abnormalities. It was first described by Juberg and Marsidi in 1980.
Individuals with Juberg-Marsidi Syndrome typically exhibit moderate to severe intellectual disability. They may have delayed speech development and learning difficulties. The facial features associated with JMS include a prominent forehead, widely spaced eyes (hypertelorism), a flat nasal bridge, a small mouth, and a thin upper lip. Some affected individuals may also have dental abnormalities, such as missing or misshapen teeth.
In addition to intellectual disability and facial features, Juberg-Marsidi Syndrome can involve other developmental abnormalities. These may include skeletal anomalies, such as joint contractures or abnormalities of the fingers and toes. Some individuals may have heart defects, such as atrial septal defects or patent ductus arteriosus. Genitourinary abnormalities, such as undescended testes in males, have also been reported in some cases.
Juberg-Marsidi Syndrome is caused by mutations in the MED12 gene, which is located on the X chromosome. This gene provides instructions for making a protein that is involved in the regulation of gene expression. Most cases of JMS occur in individuals with a new mutation in the MED12 gene and have no family history of the condition. However, in rare cases, the syndrome can be inherited in an X-linked recessive manner.
The diagnosis of Juberg-Marsidi Syndrome is based on the clinical features and can be confirmed through genetic testing. A thorough physical examination, including evaluation of facial features and developmental milestones, is important in the diagnostic process. Genetic testing, such as sequencing of the MED12 gene, can identify mutations associated with JMS.
The ICD-10 code for Juberg-Marsidi Syndrome is Q87.8. This code falls under the category of "Other specified congenital malformation syndromes affecting multiple systems." It is important to note that the ICD-10 code is used for medical billing and coding purposes to classify diseases and disorders.
As of October 1, 2015, the ICD-9 code system has been replaced by ICD-10. However, for historical reference, the ICD-9 code that was previously used for Juberg-Marsidi Syndrome is 759.89. This code falls under the category of "Other specified congenital anomalies."
In summary, Juberg-Marsidi Syndrome is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and other developmental abnormalities. It is caused by mutations in the MED12 gene and can be diagnosed through clinical evaluation and genetic testing. The ICD-10 code for JMS is Q87.8, while the previous ICD-9 code was 759.89.