Macrocephaly: genetic causes
Evidence-based neurology checklist on macrocephaly: genetic causes: 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…
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)
RASopathies (RAS-ERK pathway syndromes)
Macrocephaly syndromes with dedicated Neurochecklists
Other macrocephaly syndromes
Other genetic and chromosomal abnormalities
Acronyms
References
- Venot Q, Canaud G. PIK3CA-related overgrowth syndrome (PROS). Nephrol Ther 2017; 13(Suppl 1):S155-S156.
- 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.
- 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.
- 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.
- 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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