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Polydactyly-macrocephaly syndrome

Summary

Polydactyly-macrocephaly syndrome (PDMCS) is characterized by postaxial polydactyly and progressive macrocephaly. Variable ocular anomalies have been observed, including microphthalmia and coloboma as well as delayed visual maturation. Neurodevelopmental anomalies are also present, including global developmental delay and autism or autistic traits, with prominent perivascular spaces on brain imaging (Harris et al., 2024). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: PDMCS, bHLHd4, MAX
    Summary: MYC associated factor X

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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