LEOPARD syndrome is a very rare inherited disorder in which there are problems with the skin, face, and heart.
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.
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
- 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
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
- Hearing test
- CT scan of the brain
- Skull x-ray
- Blood tests to check certain hormone levels
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.
Complications vary and include:
- Delayed puberty
- Heart problems
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.
Genetic counseling is recommended for people with a family history of LEOPARD syndrome who want to have children.
Martínez-Quintana E, Rodríguez-González F. LEOPARD syndrome: clinical features and gene mutations. Mol Syndromol. 2012;3:145-57. PMID: 23239957 www.ncbi.nlm.nih.gov/pubmed/23239957.
Porciello R, Divona L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J. 2008;14(3):7. PMID: 18627709 www.ncbi.nlm.nih.gov/pubmed/18627709.
Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis. 2008;3:13. PMID: 18505544 www.ncbi.nlm.nih.gov/pubmed/18505544.