LEOPARD syndrome 1

LEOPARD syndrome 1 is a rare condition that falls under the group of disorders sometimes called Noonan syndrome with multiple lentigines. The condition is defined by the presence of several small, dark spots on the skin, known as lentigines, and other features that can overlap with Noonan syndrome. People with this condition have been described with a combination of physical findings that originally led to its various names including lentiginosis and cardiomyopathic multiple lentigines syndrome.

Information about common symptoms and clinical signs is currently limited for this condition. It is noted in the condition’s description and synonyms that multiple lentigines (dark spots on the skin) are a key feature, and heart-related issues (cardiomyopathy) may be present in some cases.

LEOPARD syndrome 1 is caused by a heterozygous mutation in the PTPN11 gene located on chromosome 12q24. This genetic change affects how the protein functions and plays a role in the development of the condition.

Information about treatment options and management approaches is currently limited for this condition.

Information about the prognosis and quality of life considerations is currently limited for this condition.

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