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Tolchin-Le Caignec syndrome

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND VARIABLE BONE DEFECTS

Summary

Tolchin-Le Caignec syndrome (TOLCAS) is a developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities, including osteochondroma, craniosynostosis, dysmorphic facies, arachnodactyly, and large head circumference. Rarely, additional congenital anomalies may also be observed. These additional features and the bony defects are highly variable (summary by Tolchin et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HSSOX6, SOXD, TOLCAS, SOX6
    Summary: SRY-box transcription factor 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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