Macrocephaly, dolichocephaly and frontal bossing, and mandibular prognathism are the most frequent features. Occasional nystagmus and strabismus. Occasional vertebra plana and kyphoscoliosis. Congenital heart anomalies may occur. Feeding difficulty, poor motor coordination, and clumsiness.
Most cases are sporadic but some are consistent with autosomal dominant inheritance.
Several types of neoplasms may be associated, including, Wilms tumor, neuroblastoma, hepatocellular carcinoma, epidermoid carcinoma, osteochondroma, cavernous hemangioma, and hairy pigmented nevus.