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Chung-Jansen syndrome is an autosomal dominant obesity disorder caused by a heterozygous defect in the PHIP gene. The main characteristics are developmental delay, behavioral problems, obesity and hypotonia. Typical facial features such as large earlobes, prominent eyebrows and anteverted nares are often present. Although obesity appears to be more prominent in older individuals, hyperphagia and obesity have also been described in younger patients.

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Chung-Jansen Syndrome (PHIP-Related Disorder)

  • 章节

  • 发表日期：

    2025年

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  • Wenneke van Weelden,
  • Lotte Kleinendorst,
  • Mieke van Haelst

摘要

Chung-Jansen syndrome is an autosomal dominant obesity disorder caused by a heterozygous defect in the PHIP gene. The main characteristics are developmental delay, behavioral problems, obesity and hypotonia. Typical facial features such as large earlobes, prominent eyebrows and anteverted nares are often present. Although obesity appears to be more prominent in older individuals, hyperphagia and obesity have also been described in younger patients.