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Watson syndrome

MONDO:0008672

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. IQTest scores for individuals with Watson syndromecan rangebetween 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 exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.

Also known as: Watson syndrome, WTSN, cafe-Au-lait Spots with pulmonic stenosis, pulmonic stenosis with cafe-Au-lait Spots

44 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Inherited disease susceptibility (69) Hereditary neoplastic syndrome (57) Syndromic disease (24) Neurofibromatosis (18) Human disease (14) RASopathy (9) Developmental defect during embryogenesis (7)
Trials to join now! 25 Not yet recruiting 2 Not yet finished but already full! 10 Completed 7
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