Medicine:Watson syndrome
| Watson syndrome | |
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| This condition is inherited in an autosomal dominant manner. |
Watson syndrome is a rare genetic condition characterised by brownish 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
- Westerhof syndrome
- List of cutaneous conditions
References
- ↑ 1.0 1.1 Boxel-Woolf, Tom Van; McCarthy, Kathleen M. (2025). "Speech and language skills in a case of Watson syndrome". Clinical Linguistics & Phonetics 0: 1–24. doi:10.1080/02699206.2025.2472051. ISSN 0269-9206. PMID 40077991.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 725, 831. ISBN 978-1-4160-2999-1.
- ↑ "Watson syndrome: is it a subtype of type 1 neurofibromatosis?". J. Med. Genet. 28 (11): 752–6. November 1991. doi:10.1136/jmg.28.11.752. PMID 1770531.
External links
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