Picture of Multiple Lentigines Syndrome (Face)
Noonan syndrome, formerly known as LEOPARD syndrome, is a genetic disorder characterized by:
- Lentigines, or dark spots on the neck and head
- Elecrocardiogram irregularities
- Ocular hyperteleorism (wide space between the eyes)
- Pulmonary stenosis
- Abnormal genitals
- Retarded growth
- Deafness (sensorineural type)
The condition is inherited in an autosomal dominant fashion. Mutations in the gene for protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11) cause the condition.
Text Reference: Genetics Home Reference: "Noonan Syndrome with Multiple Lentigines"