Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

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Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

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 September 2023.

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Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome?

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Advocacy Organizations

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Clinical Trials

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