LEOPARD syndrome

Also known as: Noonan syndrome with multiple lentigines

Multiple lentigines with cardiac, genital and ear anomalies.

Medical specialty: Dermatology
Subspecialty: Dermatology / Neurocutaneous syndromes
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, lentigines from age 4–5 years
Gene(s) involved: BRAF, MAP2K1, PTPN11, RAF1

Etiology & mechanism

Catalytically impaired SHP2 phosphatase dysregulating RAS signaling.

Gene(s) involved (4)

BRAFMAP2K1PTPN11RAF1

Symptoms & signs (7)

genital anomalieshypertelorismhypertrophic cardiomyopathymultiple lentiginespulmonary stenosissensorineural deafnessshort stature

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.