LEOPARD syndrome

Definition

LEOPARD syndrome is a very rare inherited disorder. People with LEOPARD syndrome have problems with the skin, face, and heart.

Causes

LEOPARD syndrome is inherited as an autosomal dominant trait. This means the person only needs the abnormal gene from one parent in order to inherit the disease.

Symptoms

LEOPARD stands for the different problems (signs and symptoms) of this disorder:

Exams and Tests

The health care provider will perform a physical exam and listen to the heart with a stethoscope. 

Tests that may be done include:

Treatment

Symptoms are treated as appropriate. A hearing aid may be needed. Hormone treatment may be necessary at the expected time of puberty to cause the normal changes to occur.

Laser, cryosurgery (freezing), or bleaching creams may help lighten some of the brown spots on the skin.

Support Groups

These resources can provide more information on LEOPARD syndrome:

Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines

National Organization for Rare Disorders -- rarediseases.org/rare-diseases/leopard-syndrome

Possible Complications

Complications vary and include:

When to Contact a Medical Professional

Call your provider if there are symptoms of this disorder.

Call for an appointment with your provider if you have a family history of this disorder and plan to have children.

Prevention

Genetic counseling is recommended for people with a family history of LEOPARD syndrome who want to have children.


Review Date: 4/14/2017
Reviewed By: Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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