Subaortic stenosis-short stature syndrome

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Subaortic stenosis-short stature syndrome

Synonyms: Onat syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose voice and vocal cord abnormalities obstructive lung disease inguinal hernia kyphoscoliosis and occasionally epicanthus strabismus microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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