Cerebellar-facial-dental syndrome

Disease definition

A rare, autosomal recessive, multiple congenital anomalies/dysmorphic syndrome characterized mainly by developmental delay, variable intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features (central incisors macrodontia and slender fingers), short stature and variable congenital anomalies.

The summary has just been updated on Orphanet (ORPHA:444072) – October 2020 and revised by Dr Irene VALENZUELA for ERN ITHACA.

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