Macrocephaly/Autism syndrome. Cole-Hughes syndrome.
Incidence
Autosomal dominant. It is a rare syndrome.
Clinical Characteristics
Cole and Hughes in 1991 reported 6 children with some features like Sotos syndrome but with certain differences. They showed remarkable similarities to each other and to some of their first- and second-degree relatives. In addition to macrocephaly, affected individuals had typical facies characterized by square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum. Birth weight and length were normal or near normal with subsequent obesity. Later, Naqvi et al. (2000) reported 2 patients who had the same clinical features as the patients described by Cole and Hughes in addition to autistic characteristics with attention deficit disorder. They noted that the patients described by Cole and Hughes (1991) with adequate psychometric data had delays in language and social development much more prominent than delays in motor function, suggesting that some of these patients may have had autistic features. This may represent a recognizable syndrome within the autism behavioral phenotype.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis.