Deafness-epiphyseal dysplasia-short stature syndrome

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Synonyms: Chitty-Hall-Baraitser syndrome | Hearing loss-epiphyseal dysplasia-short stature syndrome

A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness developmental delay moderate intellectual disability generalized delay in bone maturation short stature epiphyseal dysplasia particularly of the capital femoral epiphyses and mild dysmorphic facial features such as prominent forehead and small pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.

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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