Juberg-Marsidi syndrome (JMS) is a rare, multisystem, congenital condition, first noted by Richard Juberg and Irene Marsidi in 1980.
Cause and symptoms Mental retardation, stunted growth, sensory impairments, and microgenitalism are all symptoms of this condition.
At birth, they all had low growth characteristics, such as a small head circumference, a delayed bone age, and dysmorphic facial traits. The first uncle died when he was nine years old, and the second uncle died when he was ten months old. X-linked intellectual disability syndromes Neurodevelopmental X-linked intellectual disability syndromes are caused by mutations in the E3 ligase HUWE1. HUWE1-promoted XLID syndromes are diverse, presenting with a wide variety of clinical symptoms ranging from dysmorphic facial characteristics and mild intellectual disability to severe ID and early mortality.Cause and symptoms The HUWE1 gene is found on the X chromosome and is responsible for Juberg-Marsidi syndrome.
Although congenital cardiac disease has been reported, it is not always included in this category. Symptoms vary in scope and severity from case to case. It is usually deadly in childhood or infancy. Undescended/atrophic testes and micropenis are common genitourinary symptoms.
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