Deafness-epiphyseal dysplasia-short stature syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version June 2024

Newly diagnosed with
Deafness-epiphyseal dysplasia-short stature syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.