Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

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A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine) myopathy hypotonia short stature microcephaly and facial dysmorphism (including low-set ears bulbous nose long philtrum high-arched palate and low posterior hairline among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.

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 July 2024

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Advocacy Organizations

Team Titin

Team Titin, Inc.'s mission is to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders. To achieve this mission, we focus on four key pillars: Connection, Advocacy, Care, and Research.

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Clinical Trials

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