Myhre syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Facial dysmorphism-intellectual disability-short stature-deafness syndrome | Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

A rare multiple congenital anomalies syndrome characterized by short stature distinctive facial dysmorphism brachydactyly stiff and thick skin muscular pseudohypertrophy restricted joint mobility hearing loss and variable intellectual disability. Cardiovascular and respiratory involvement are common.

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 May 2024

Newly diagnosed with
Myhre 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

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

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