BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuNoonan syndrome with multiple lentiginesMultiple lentigines syndrome; LEOPARD syndrome; NSMLNoonan 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 with multiple lentigines was formerly known as LEOPARD syndrome. Causes NSML 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 The former name of NSML of LEOPARD stands for the different problems (signs and symptoms) of this disorder:Lentigines -- large number of brown or black freckle-like skin markings that mainly affect the neck and upper chest but can appear all over the body Electrocardiograph conduction abnormalities -- problems with the electrical and pumping functions of the heart ElectrocardiographAn electrocardiogram (ECG) is a test that records the electrical activity of the heart.Read Article Now Book Mark Article Ocular hypertelorism -- eyes that are spaced wide apart Pulmonary valve stenosis -- narrowing of the pulmonary heart valve, resulting in less blood flow to the lungs and causing shortness of breath Pulmonary valve stenosisPulmonary valve stenosis is a heart valve disorder that involves the pulmonary valve. This is the valve separating the right ventricle (one of the ch...Read Article Now Book Mark Article Abnormalities of the genitals -- such as undescended testicles Undescended testiclesUndescended testicle occurs when one or both testicles fail to move into the scrotum before birth.Read Article Now Book Mark Article Retardation of growth (delayed growth) -- including bone growth problems of the chest and spine Delayed growthDelayed growth is poor or abnormally slow height or weight gains in a child younger than age 5. This may just be normal, and the child may outgrow i...Read Article Now Book Mark Article Deafness -- hearing loss may vary between mild and severeNSML is similar to Noonan syndrome. However, the main symptom that tells apart the two conditions is that people with NSML have lentigines.Noonan syndromeNoonan syndrome is a disease present from birth (congenital) that causes many parts of the body to develop abnormally. In some cases it is passed do...Read Article Now Book Mark Article 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:ECG and echocardiogram to check the heart EchocardiogramAn echocardiogram is a test that uses sound waves to create pictures of the heart. The picture and information it produces is more detailed than a s...Read Article Now Book Mark Article Hearing test CT scan of the brain Skull x-ray EEG to check the brain's function Blood tests to check certain hormone levels Removing a small amount of skin for examination (skin biopsy)Skin biopsyA skin lesion biopsy is when a small amount of skin is removed so it can be examined. The skin is tested to look for skin conditions or diseases. A...Read Article Now Book Mark Article 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 More information and support for people with LEOPARD syndrome and their families can be found at:National Organization for Rare Disorders - rarediseases.org/rare-diseases/leopard-syndrome Noonan Syndrome Foundation - www.teamnoonan.org/information Rasopathies Network - rasopathiesnet.org/ Possible Complications Complications vary and include:Deafness Delayed puberty Heart problems InfertilityInfertilityInfertility means you cannot get pregnant (conceive). There are 2 types of infertility:Primary infertility refers to couples who have not become preg...Read Article Now Book Mark Article 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 NSLM who want to have children.Open ReferencesReferencesJames WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Melanocytic nevi and neoplasms. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 30.Paller AS, Mancini AJ. Disorders of pigmentation. In: Paller AS, Mancini AJ, eds. Paller and Mancini – Hurwitz Clinical Pediatric Dermatology. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 11.AllVideoImagesTogRelated Information Sensorineural deafness(Symptoms)Pulmonary valve stenosis(Condition)Electrocardiogram(Medical Test)Undescended testicle(Condition)Hypogonadism(Condition)Hearing loss(Symptoms)Infertility(Condition)Infertility in women(In-Depth) Review Date: 4/14/2021 Reviewed By: Elika Hoss, MD, Senior Associate Consultant, Mayo Clinic, Scottsdale, AZ. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- © 1997- All rights reserved. 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