Noonan syndrome with multiple lentigines (NSML) is a very rare inherited disorder. People with this condition have problems with the skin, head and face, inner ear, and heart. The genitals may also be affected.
Noonan syndrome was formerly known as LEOPARD syndrome.
NSLM 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.
The former name of NSML of LEOPARD stands for the different problems (signs and symptoms) of this disorder:
NSML is similar to Noonan syndrome. However, the main symptom that tells apart the two conditions is that people with NSML have lentigines.
The health care provider will perform a physical exam and listen to the heart with a stethoscope.
Tests that may be done include:
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.
These resources can provide more information on LEOPARD syndrome:
Complications vary and include:
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.
Genetic counseling is recommended for people with a family history of NSLM who want to have children.
Reviewed By: Michael Lehrer, MD, Clinical Associate Professor, Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. 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.