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MOEBIUS SYNDROME

Clinical Genetics Genomics Ophthalmology Paediatrics


PLXND1 AND REV3L GENE ANALYSIS 

Moebius syndrome (Möbius syndrome) is a rare, congenital, neurological disorder characterised by paralysis or weakness of the cranial nerves, most often the 6th (abducens) and 7th (facial) nerves. This paralysis affects the ability to control facial expression and eye movement. Individuals with Moebius syndrome may have other congenital anomalies, including micrognathia, cleft palate, hypotonia, hearing loss and dental abnormalities.

In 2015, de novo variants in the PLXND1 and REV3L genes were reported to cause a small proportion of cases of Moebius syndrome (Tomas-Roca et al. 2015 Nat Commun 6:7199 doi 10.1038/ncomms8199).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.

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