Noonan syndrome with multiple lentigines

Also known as: Gorlin syndrome II; LEOPARD syndrome

RASopathy with lentigines, ECG abnormalities, pulmonary stenosis and hypertrophic cardiomyopathy.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: BRAF, MAP2K1, PTPN11, RAF1

Etiology & mechanism

Loss-of-function PTPN11 variants.

Gene(s) involved (4)

BRAFMAP2K1PTPN11RAF1

Symptoms & signs (8)

ecg conduction abnormalitiesgenital anomaliesgrowth retardationhypertelorismhypertrophic cardiomyopathymultiple lentiginespulmonary stenosissensorineural deafness

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