LEOPARD Syndrome

Overview

An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.

This information is general and should not be treated as medical advice. Always speak directly with a qualified healthcare professional before making decisions about treatment, diagnosis, procedures, medicines or care.

Quick facts about LEOPARD Syndrome

Topic type

Condition

Category

Dermatology

MeSH classification

C05.660.207.525|C14.240.400.695|C14.280.400.695|C14.280.484.716.525|C16.131.077.525|C16.131.240.400.685|C16.131.621.207.525|C17.800.621.430.530.550.525

Preparing for an appointment about LEOPARD Syndrome

If you are speaking with a healthcare professional about LEOPARD Syndrome, it can help to prepare a few details in advance.

• Write down your symptoms and when they started.
• Bring details of any medicines, supplements or previous treatments.
• Ask what tests or assessments may be needed.
• Ask what treatment or management options may be suitable.
• Ask when you should seek urgent medical help or follow-up care.

Finding care related to LEOPARD Syndrome

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