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Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Genetics:
- associated with defects in CBL
Clinical manifestations:
- phenotype with similarities to Noonan syndrome
- clinical features are highly variable, including
- facial dysmorphism
- short neck
- developmental delay
- hyperextensible joints
- thorax abnormalities with widely spaced nipples
- facial features consist of triangular face with
- hypertelorism
- large low-set ears
- ptosis
- flat nasal bridge
- some patients manifest cardiac defects
Laboratory:
- see ARUP consult [2]
Related
Noonan's syndrome
Noonan-like syndrome (Noonan-like/multiple giant cell lesion syndrome)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 613563
References
- OMIM :accession 613563
- ARUP Consult: Noonan Spectrum Disorders Panel
https://arupconsult.com/ati/noonan-spectrum-disorders-panel