noonan syndromemedical dictionary


A multifaceted disorder due to a basic defect of connective tissue. It is characterised by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, cryptorchidism, multiple cardiac abnormalities (most commonly including pulmonary valve stenosis), and some degree of mental retardation. The phenotype resembles that of turner's syndrome; however, noonan syndrome occurs in both males and females, and no chromosomal abnormality has been found. Nevertheless, familial studies suggest that the trait is inherited as an autosomal dominant.

(12 Dec 1998)

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