LEOPARD syndrome
MeSH: D044542ORPHA: 500
Overview
rare autosomal dominant,[3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11)
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with LEOPARD syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the genital systemHypertelorismSensorineural hearing impairmentHyperextensible skinMelanocytic nevusMultiple lentiginesFrecklingGrowth delayIntrauterine growth retardationHypertrophic cardiomyopathyAbnormal pulmonary valve morphologyPulmonic stenosisAbnormality of the pulmonary arterySevere sensorineural hearing impairmentArrhythmiaBundle branch blockCryptorchidismDecreased fertilityAbnormality of the faceWide nasal bridgeWebbed neckPtosisPectus excavatumPectus carinatumSprengel anomalyAbnormal mitral valve morphologyMitral valve prolapseScapular wingingShort statureAtrioventricular canal defectAbnormal cardiovascular system morphologyHypospadiasBrachycephalyTriangular faceMild intellectual disabilityGlobal developmental delaySubcutaneous noduleAbnormality of the voiceMyocardial infarctionVascular dilatationScoliosisMelanomaMyelodysplasiaNeuroblastomaSpina bifida occultaAbnormal endocardium morphologyExcessive wrinkled skinAplasia/Hypoplasia of the abdominal wall musculatureAbnormal localization of kidneyPosteriorly rotated ears
Classification & Codes
MeSH Code
D044542Orphanet Code
ORPHA:500LEOPARD syndrome
| MeSH | D044542 |
| Orphanet | ORPHA:500 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO