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Start free with EleplanNoonan syndrome with multiple lentigines
ORPHA:500Malformation syndrome
Also called Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome · LEOPARD syndrome
What it is
A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
16- Abnormality of the genital system
- Abnormality of the pulmonary artery
- Abnormal pulmonary valve morphology
- Arrhythmia
- Bundle branch block
- Freckling
- Growth delay
- Hyperextensible skin
- Hypertelorism
- Hypertrophic cardiomyopathy
- Intrauterine growth retardation
- Melanocytic nevus
- Multiple lentigines
- Pulmonic stenosis
- Sensorineural hearing impairment
- Severe sensorineural hearing impairment
Common30–79%
16- Abnormal cardiovascular system morphology
- Abnormality of the face
- Abnormal mitral valve morphology
- Atrioventricular canal defect
- Cryptorchidism
- Decreased fertility
- Mitral valve prolapse
- Pectus carinatum
- Pectus excavatum
- Posteriorly rotated ears
- Ptosis
- Scapular winging
- Short stature
- Sprengel anomaly
- Webbed neck
- Wide nasal bridge
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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