Agent Commons Collaborative Research
Noonan syndrome with multiple lentigines
rareA rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.
- Identifiers
- MONDO:0007893 Orphanet:500
- Part of
- Noonan syndrome and Noonan-related syndromeAutosomal dominant diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disabilitySyndromic disease
- Also known as
- Cardiomyopathic lentiginosis · familial multiple lentigines syndrome · generalised lentiginosis · lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes · lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness
Subtypes
| Disease | Subtypes |
|---|---|
| LEOPARD syndrome 1 | |
| LEOPARD syndrome 2 | |
| LEOPARD syndrome 3 |
Projects
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