©2018 WebMD, Inc. All rights reserved. eMedicineHealth does not provide medical advice, diagnosis or treatment. See Additional Information.

Diseases of Pigment

Picture of Multiple Lentigines Syndrome (Face)

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.

Image Source: Color Atlas & Synopsis of Pediatric Dermatology Kay Shou-Mei Kane, Jen Bissonette Ryder, Richard Allen Johnson, Howard P. Baden, Alexander Stratigos Copyright 2002 by The McGraw-Hill Companies. All rights reserved.

Text Reference: Genetics Home Reference: "Noonan Syndrome with Multiple Lentigines"