What Is LEOPARD Syndrome?

LEOPARD syndrome is a genetic medical condition with characteristic traits, or symptoms, represented by the condition’s acronym. In order, these traits are lentigines, electrocardiographic conduction defects, pulmonary stenosis, abnormalities of the genitalia, retarded growth, and deafness. Each case of LEOPARD syndrome varies from person to person, and some individuals might not exhibit all the features associated with the condition; this includes members of the same family, who can also exhibit different LEOPARD syndrome traits even though the condition is genetic. In general, gene mutations cause LEOPARD syndrome, and the mutation passes down from parent to child as an autosomal dominant condition. Sometimes though, a new gene mutation can cause the LEOPARD syndrome in individuals with no family history of the condition.

Lentigines are brown spots that resemble freckles and appear in multiples on mostly the face, neck and trunk. In general, café-au-lait spots, spots lighter in color than lentigines, can also appear on an individual with this condition. Electrocardiographic conduction defects refers to heart problems such as hypertrophic cardiomyopathy, in which the heart struggles to pump blood. Ocular hypertelorism, or wide-set eyes, is just one characteristic facial feature of an individual with LEOPARD syndrome. Other features accompanying the syndrome include low-set ears and thick lips.

Pulmonary stenosis is a condition in which the artery between the heart and lungs narrows and sometimes goes hand in hand with electrocardiographic conduction defects. Abnormalities of the genitalia mean there is a defect with the reproductive organs, such as undescended testicles in men or poorly developed ovaries in women; these abnormalities can result in decreased fertility or delayed puberty. Retarded growth is a symptom that leads to a short stature in about half or more of those with LEOPARD syndrome. In general, this slow growth occurs over time as affected individuals are usually normal in height and weight when they are born. Deafness is also another trait of the syndrome, and is due to abnormalities that occur in the inner ear.

In addition to these characteristic traits, here are a variety of other symptoms associated with LEOPARD syndrome, such as developmental delays or learning disorders. As different individuals will exhibit different symptoms of this syndrome, and in different severity, treatment will vary from person to person. In general, treatment for the condition involves targeting those characteristic traits that are manageable or treatable. For example, hearing aids might work as a solution to deafness or hearing loss.