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Pediatrics8 papers

Fryns macrocephaly

Last edited: 4/16/2026

Overview

Fryns macrocephaly, encompassing syndromes like benign familial macrocephaly, Ruvalcaba-Myhre-Smith syndrome, and Bannayan-Zonana syndrome, is characterized by significantly enlarged head size often associated with hypotonia and muscle weakness 1.

Diagnosis

  • Clinical Features: Macrocephaly, hypotonia, muscle weakness 1.
  • Muscle Biopsy: Evidence of lipid storage myopathy is common and supports diagnosis 1.
  • Genetic Testing: Consideration for identifying specific genetic mutations underlying these syndromes 1.

    • Management

  • Supportive Care: Focus on managing hypotonia and motor development delays through physical therapy 1.
  • Monitoring: Regular neurological and developmental assessments to track progression 1.
  • No Specific Pharmacological Treatment Mentioned: Current evidence does not specify particular drug classes or doses 1.

    • Special Populations

  • Pediatrics: Early intervention with physical therapy is crucial for motor development 1.

    • Key Recommendations

  • Perform muscle biopsy to assess for lipid storage myopathy in patients with suspected Fryns macrocephaly syndromes (Evidence: Moderate) 1.
  • Implement supportive care measures including physical therapy to address hypotonia and motor skill development (Evidence: Expert opinion) 1.
  • Conduct regular neurological evaluations to monitor developmental milestones and adjust interventions accordingly (Evidence: Expert opinion) 1.

    • References

    1 DiLiberti JH. Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes. Journal of medical genetics 1992. link

    Original source

    1. [1]
      Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes. — DiLiberti JH Journal of medical genetics (1992)
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