Watson syndrome

Common Name(s)

Watson syndrome

Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQ test scores for individuals with Watson syndrome can range between 60-100.  Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exact cause of this condition is unknown. The condition is inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Watson syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Watson syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
 

Author(s): M Tassabehji, T Strachan, M Sharland, A Colley, D Donnai, R Harris, N Thakker

Journal: Am. J. Hum. Genet.. 1993 Jul;53(1):90-5.

 

Type 1 neurofibromatosis (NF1), Watson syndrome (WS), and Noonan syndrome (NS) show some overlap in clinical manifestations. In addition, WS has been shown to be linked to markers flanking the NF1 locus and a deletion at the NF1 locus demonstrated in a WS patient. This suggests either ...

Last Updated: 23 Jul 1993

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Watson syndrome: is it a subtype of type 1 neurofibromatosis?
 

Author(s): J E Allanson, M Upadhyaya, G H Watson, M Partington, A MacKenzie, D Lahey, H MacLeod, M Sarfarazi, W Broadhead, P S Harper

Journal: J. Med. Genet.. 1991 Nov;28(11):752-6.

 

Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of this autosomal dominant condition. A fourth family with Watson syndrome has since ...

Last Updated: 24 Feb 1992

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Watson syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Diagnosis of Acute Porphyria
 

Status: Recruiting

Condition Summary: Hereditary Coproporphyria (HCP); Acute Intermittent Porphyria (AIP); Variegate Porphyria (VP)

 

Last Updated: 23 Sep 2013

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