Mandason syndrome
Mandelson syndrome is a rare genetic disorder characterized by intellectual disability, growth delay, distinctive facial features, and various other physical abnormalities. It is also known as MED12-associated syndromic intellectual disability.
The syndrome is caused by mutations in the MED12 gene, which is located on the X chromosome. As a result, Mandelson syndrome primarily affects males, although females can also be carriers of the gene mutation and may experience milder symptoms.
Some of the common features of Mandelson syndrome include short stature, small head size (microcephaly), distinctive facial features such as a prominent forehead and widely spaced eyes, and other physical abnormalities like heart defects, hearing loss, and abnormalities of the hands and feet.
Intellectual disability is a core feature of Mandelson syndrome, ranging from mild to severe. Individuals with this syndrome may have delayed speech and language development and may require assistance with daily living activities.
There is currently no cure for Mandelson syndrome, and treatment primarily focuses on managing the symptoms and providing support to individuals and their families. This may involve early intervention programs, educational support, physical and occupational therapy, and regular monitoring of any associated health issues.
Genetic counseling is also recommended for families affected by Mandelson syndrome, as it is an inherited disorder. Understanding the genetic basis of the syndrome can help with family planning and management of the condition.