Keipert syndrome

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Keipert syndrome

Synonyms: Nasodigitoacoustic syndrome

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism broad and high nasal bridge depressed nasal ridge short columella underdeveloped maxilla and prominent cupid-bow upper lip vermillion) mild to severe congenital sensorineural hearing loss and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis voice hoarseness and renal agenesis.

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: // Data version September 2023.

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Keipert syndrome?

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