Myhre syndrome

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

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Myhre syndrome?

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