Watson syndrome
| Watson syndrome | |
|---|---|
 | |
| This condition is inherited in an autosomal dominant manner. | |
| Specialty | Medical genetics  |
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
[edit]References
[edit]- ^ a b Boxel-Woolf, Tom Van; McCarthy, Kathleen M. "Speech and language skills in a case of Watson syndrome". Clinical Linguistics & Phonetics. 0 (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.
- ^ Allanson JE, Upadhyaya M, Watson GH, et al. (November 1991). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?". J. Med. Genet. 28 (11): 752–6. doi:10.1136/jmg.28.11.752. PMC 1017110. PMID 1770531.
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