What is LEOPARD syndrome?
LEOPARD syndrome is a rare, inherited disorder of the skin, heart, ear, head and face, and/or genitals. The range and severity of symptoms present physically varies from case to case. LEOPARD represents an acronym describing the most common symptoms of the disorder.
L: Lentigines (dark or brown spotting of the skin)
E: Electrocardiographic conduction defects
O: Ocular Hypertolerism
P: Pulmonary stenosis
A: Abnormalities of the genitals
R: Retarded growth
D: Deafness or hearing loss
LEOPARD syndrome may also be referred to as Noonan syndrome with multiple lentigines, multiple lentigines syndrome, or cardiomyopathic lentiginosis.
What are the symptoms of LEOPARD syndrome?
In addition to the symptoms described by the LEOPARD acronym, people with LEOPARD syndrome may experience the following:
- Abnormality of the pulmonary artery
- Bundle branch block
- Hyperextensible skin
- Hypertrophic cardiomyopathy
- Intrauterine growth retardation
- Melanocytic nevus
- Multiple lentigines
- Pulmonic stenosis
What causes LEOPARD syndrome?
LEOPARD syndrome is passed through an autosomal dominant genetic pattern. LEOPARD syndrome is caused by mutations to the PTPN11, RAF1, BRAF, or MAP2K1 genes. In some cases the cause is unknown.
How is LEOPARD syndrome diagnosed?
In some cases, LEOPARD syndrome is suspected from birth due to abnormal skin pigmentation (pale tan, or light brown discolorations), facial features, and hypertrophic cardiomyopathy. When observed alongside two or more other LEOPARD features, this may be enough to confirm a diagnosis. Genetic testing is also possible for the PTPN11 and RAF1 gense and may even enable prenatal diagnosis.
What are the treatments for LEOPARD syndrome?
Treatment for LEOPARD syndrome is symptomatic and differs depending on the degree to which each symptom is expressed in an individual. Early diagnosis and treatment is important such that children with LEOPARD syndrome achieve full growth and potential. Genetic counseling is often recommended to patients with LEOPARD syndrome and their families.
In mild forms of LEOPARD syndrome treatment may not be necessary. In other cases, targeted medicines may be used to treat symptoms such as cardiomyopathy, and pulmonary stenosis. Surgical treatment may be necessary. Hormone treatments can be useful in resolving issues of delayed puberty or decreased gonadal function. Hearing aids and speech therapy may be used to resolve aural difficulties or speech impairment.
Where can I find out more about LEOPARD syndrome?