Overview Of Noonan Syndrome With Multiple Lentigines (NSML)
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.
Commonly Associated With
Multiple lentigines syndrome; LEOPARD syndrome; NSML
Causes Of Noonan Syndrome With Multiple Lentigines (NSML)
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.
Symptoms Of Noonan Syndrome With Multiple Lentigines (NSML)
The former name of NSML of LEOPARD stands for the different problems (signs and symptoms) of this disorder:
- Lentigines – a 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
- 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
- Abnormalities of the genitals – such as undescended testicles
- Retardation of growth (delayed growth) – including bone growth problems of the chest and spine
- Deafness – hearing loss may vary between mild and severe
- NSML is similar to Noonan syndrome. However, the main symptom that tells apart the two conditions is that people with NSML have lentigines.
Exams & 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
- 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)
Treatment Of Noonan Syndrome With Multiple Lentigines (NSML)
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.