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Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia

Summary

Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by Van Bergen et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDFACH, SEC5, SEC5L1, Sec5p, EXOC2
    Summary: exocyst complex component 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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