Essential
It is feasible that the major title of the record Juberg-Marsidi Syndrome is not the name you anticipated. Happy inspect the words providing to encounter the alternating name(s) as well as problem neighborhood(s) covered by this record.
Basic synonyms
- JMS
- Psychological Retradation, X-linked with Growth Delay, Deafness, Microgenitalism
- Juberg-Marsidi Mental Retardation Syndrome
Problem Subdivisions
- None
General Discussion
Juberg-Marsidi disorder is a very uncommon X-linked congenital disease that is totally shared in men just, and also appears at birth (hereditary) or throughout the very first couple of weeks of life (neonatal duration). Afflicted kids display extreme mental deficiency; hold-ups within developing turning points (e.g., creeping, strolling, and so on); muscle mass weak point; decreased muscle mass tone (hypotonia); and/or postponed bone development in addition to development retardation, leading to brief stature.
Influenced babies likewise display hearing loss; underdevelopment of the genital areas (microgenitalism); and/or problems of the head and also face (craniofacial) location such as an unusually little head (microcephaly), a level (depressed) nasal link, eye (ocular) problems, and/or, in many cases, added physical irregularities. The array as well as seriousness of signs could differ from instance to situation. Juberg-Marsidi disorder is acquired as an X-linked recessive attribute.