LEOPARD Syndrome
Patient Information
Characteristics
Background and History
This is a condition with widespread signs and symptoms throughout the body including the skin, hair, skeleton, genitalia, and neurological systems. Its name is partially based on the presence of multiple pigmented skin lesions, called lentigines scattered over most of the body. It is sometimes called multiple lentigines syndrome.
Clinical Correlations
The flat, black-brown skin lesions appear at about the age of 4 or 5 years. By puberty thousands are present. However, general growth is retarded before then and severe sensorineural deafness is usually present early as well. The head and face are said to be characteristic with widely spaced eyes, downward slanting of the lid openings, low-set ears, and a broad upper face with a narrow lower face. The majority of patients (85%) have some heart abnormalities including thickening of the heart wall (hypertrophic cardiomyopathy), and some obstruction of the pulmonary artery. The genitalia may remain infantile. Some psychomotor and developmental delays are often present and even those with normal intelligence may exhibit juvenile behavior. In spite of slow growth, the majority of individuals are of normal height.
Genetics
Inheritance
The LEOPARD syndrome follows an autosomal dominant pattern of inheritance. Individuals with this condition can expect that approximately half of their children will have the same condition.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
The diagnosis is likely made by a pediatrician. Lifelong monitoring is necessary primarily because of the risk of progressive and serious heart disease. Special education and hearing devices should be considered. Undescended testes can be treated as in other children. Longevity is normal.
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