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. Author manuscript; available in PMC: 2012 Jun 25.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):484–491. doi: 10.1002/ajmg.b.30493

TABLE III.

Syndromes With Macrocephaly Sometimes Associated With Autism Spectrum Disorders

Syndrome Gene Chromosome References
Sotos syndrome NSD1 5q35 Morrow et al. [1990]
Zappella [1990]
Fragile X syndrome FMR1 Xq27.3 Hagerman [2006]
Neurofibromatosis type 1 NF1 17q11.2 Williams and Hersh [1998]
Terminal 22q deletion syndrome SHANK3 22q13 Manning et al. [2004]
PTEN hamartoma tumor syndromea PTEN 10q23.31 Butler et al. [2005]
Delatycki et al. [2003]
Goffin et al. [2001]
Parisi et al. [2001]
Zori et al. [1998]
Cole–Hughes syndrome ? ? Naqvi et al. [2000]
Orstavik syndromeb ? ? Orstavik et al. [1997]
Steiner et al. [2003]
a

The PTEN hamartoma-tumor syndrome includes Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, Proteus syndrome, and Lhermitte–Duclos disease.

b

The Orstavik syndrome was described by Orstavik et al. [1997] and is characterized by macrocephaly, epilepsy, autism, mental retardation, and dysmorphic features.

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