A genetic syndrome transmitted in an autosomal dominant manner that is named for its characteristic features:
L
-- lentigines (dark freckles) on the head and neck
E
-- electrocardiogram (EKG) abnormalities
O
-- ocular hyperteleorism (wide-spacing of the eyes)
P
-- pulmonary stenosis
A
-- abnormal genitalia
R
-- retardation of growth
D
-- deafness (sensorineural type)
The LEOPARD syndrome is caused by mutations in the gene for protein-tyrosine phosphatase, nonreceptor-type, 11 (PTPN11). The LEOPARD syndrome is therefore allelic with Noonan syndrome which is also the result of mutations in PTPN11.
LEOPARD syndrome is the most common name for the disorder. It is also known as multiple lentigines syndrome, Gorlin syndrome II, cardio-cutaneous syndrome, lentiginosis profusa syndrome, progressive cardiomyopathic lentiginosis.
medical
dictionary, online medical dictionary, medical
terminology dictionary, free online medical
dictionary, medical dictionary, online medical
dictionary, medical terminology dictionary, free
online medical dictionary, dictionary medical,
dictionary medical online, dictionary medical
terminology, dictionary free medical online,
dictionary free medical, dictionary medical
terms, dictionary drug medical medicine,
dictionary health illustrated medical nursing
profession stedmans, dictionary English medical,
dictionary medical online terminology,
dictionary encyclopedia medical online,
condition dictionary medical, dictionary
medical, dictionary drug medical, medical
dictionary software, cyclopedic dictionary index
medical tabers thumb, medical dictionary, online
medical dictionary, medical terminology
dictionary
