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.