LEOPARD syndrome

What is Leopard syndrome?

Leopard syndrome is a rare genetic condition. The main symptoms of the syndrome affect the skin, heart, inner ear, and genitalia.

It belongs to a group of diseases known as RASopathies. The body’s RAS pathway is responsible for its growth and development. RASopathies, like LEOPARD syndrome, are caused by gene changes that affect and impair these pathways in some way.

Other syndrome names are Lentiginosis, Cardyomyopathic; Multiple Lentigines syndrome.

What gene change causes Leopard syndrome?

There are three types of the syndrome, each caused by a specific gene change.

  • Type 1: caused by mutations in the PTPN11 gene.
  • Type 2: caused by mutations in the RAF1 gene.
  • Type 3: caused by mutations in the BRAF gene.

It is inherited in an autosomal dominant pattern or as the result of a de novo mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Leopard syndrome?

The name of the syndrome is an acronym for the main symptoms of the condition.

  • Lentigines: dark spots on the skin
  • Electrocardiographic conduction defects: issues with the electrical activity of the heart
  • Ocular hypertelorism: widely spaced eyes
  • Pulmonary stenosis: outflow of blow from the right ventricle of the heart is restricted or affected
  • Abnormalities of genitalia
  • Reatrded growth: a short stature
  • Deafness: caused by inner ear abnormalities

How is it diagnosed?

To find out if someone has a diagnosis of Leopard syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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