Noonan syndrome with multiple lentigines


Engelsk navn: Noonan syndrome with multiple lentigines
Engelske synonym: Cardiomyopathic lentiginosis,Familial multiple lentigines syndrome,LEOPARD syndrome


Definisjon

A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

Fra Orphanet

ORPHA: 500
Klassifiseringsnivå: Disorder
ICD-10: Q87.1

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