What is Monosomy 18p / De Grouchy syndrome

Monosomy 18p, also known as De Grouchy syndrome, is a rare genetic disorder caused by the deletion of a portion of the short arm of chromosome 18. This condition affects various aspects of development and can lead to a range of physical and intellectual disabilities.

Individuals with Monosomy 18p may exhibit distinctive facial features, such as a prominent forehead, low-set ears, and a small chin. They may also experience growth delays, intellectual disabilities, and delays in motor skills development. Additionally, some individuals may have heart defects, kidney abnormalities, or other organ malformations.

The severity of symptoms can vary widely among affected individuals, making it challenging to predict the specific impact of Monosomy 18p on an individual's health and development. Early intervention and ongoing support from healthcare professionals, therapists, and educators can help manage the symptoms and improve the quality of life for individuals with this condition.

It is important for individuals with Monosomy 18p and their families to work closely with healthcare providers to address their specific needs and access appropriate resources and support.