Macrocephaly: genetic causes

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Macrocephaly: genetic causes. Macrocephaly-capillary malformation syndrome (M-CM/MCAP). Fully referenced neurology checklist.

PIK3CA-related overgrowth spectrum (PROS)

  • Macrocephaly-capillary malformation syndrome (M-CM/MCAP)
  • Dysplatic megalencephaly (DMEG)
  • CLAPO syndrome
  • CLOVES syndrome
  • Hemihyperplasia-multiple lipomatosis (HHML)
  • Fibroadipose overgrowth (FAO)
  • Klippel-Trenaunay syndrome
  • Macrodactyly

PTEN harmatoma tumour syndromes (PHTS)

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RASopathies (RAS-ERK pathway syndromes)

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Macrocephaly syndromes with dedicated Neurochecklists

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Other macrocephaly syndromes

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Other genetic and chromosomal abnormalities

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Acronyms

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References

  1. Venot Q, Canaud G. PIK3CA-related overgrowth syndrome (PROS). Nephrol Ther 2017; 13(Suppl 1):S155-S156. 
  2. Keppler-Noreuil KM, Rios JJ, Parker VE, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A 2015; 167A:287-295. 
  3. Luk HM, Lo IF, Lai CW, Yeung WL, Lam ST. Macrocephaly-capillary malformation: a report of four Chinese patients and literature review. Clin Dysmorphol 2012; 21:64-68.
  4. Martínez-Glez V, Romanelli V, Mori MA, et al. Macrocephaly-capillary malformation: analysis of 13 patients and review of the diagnostic criteria. Am J Med Genet A 2010; 152A:3101-3106. 
  5. Rodriguez-Laguna L, Ibañez K, Gordo G, et al. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype. Genet Med 2018; 20:882-889.
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