Coffin-Siris syndrome 1

Coffin-Siris syndrome 1 is a rare genetic condition caused by a mutation in the ARID1B gene. This condition is one form of Coffin-Siris syndrome, and it is also known by several other names such as fifth digit syndrome and CSS1. The definition of this syndrome highlights the link between the mutation in the ARID1B gene and the clinical features observed in affected individuals. People with Coffin-Siris syndrome 1 may show developmental differences and have distinct physical features. The information provided is based on known genetic causes and the identification of specific genetic markers, as outlined in available medical resources.

People with Coffin-Siris syndrome 1 may have developmental delays and intellectual disability. They can also exhibit unique physical features such as distinctive facial characteristics, extra hair growth (hypertrichosis), thickened skin (hyperkeratosis), and sometimes differences in the structure of the fifth digit (finger). These features can vary from one individual to another.

Coffin-Siris syndrome 1 is caused by a mutation in the ARID1B gene. This gene mutation is the primary factor leading to the development of the condition. The recognized genetic cause helps in understanding the basis of the syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.