Watson syndrome
Template:Infobox medical condition (new) Watson syndrome is a rare genetic condition characterised by café-au-lait patches of skin, short stature, pulmonary stenosis, developmental delays, and learning difficulties.[1] Its inheritance is autosomal dominant, and it may also occur with Lisch nodules of the ocular iris, axillary/inguinal freckling, and neurofibromas.[2] Watson syndrome is caused by mutations in the NF1 gene, the same gene associated with neurofibromatosis type 1.[3] It is believed that Watson syndrome and neurofibromatosis-1 result from allelic mutations at the NF1 locus.
Watson syndrome has sometimes been described as a 'milder form' of neurofibromatosis-1 due to shared features including mutation of the NF1 gene, café-au-lait patches, and neurofibroma, variably presenting with similar cognitive and physiological features to Noonan syndrome, a genetic condition resulting in developmental delays, learning disability, cardiovascular abnormalities, and short stature. The pathophysiology of all three conditions fits into the RASopathy model.[1]
See also
References
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