Short stature-valvular heart disease-characteristic facies syndrome

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Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs small hands clinodactyly valvular heart disease and dysmorphism (ptosis high-arched palate abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.

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 http://www.orphadata.org. Data version June 2024

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