There is a range of signs and symptoms including cleft lip or palate, intellectual disabilities and various forms of ectodermal dysplasia.

Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin.

It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance,[5] and caused by a mutation affecting the TP63 gene.

[8] The cause was found in the year 2000 by Suzuki et al. when he analyzed the genome of patients with the disorder and discovered a homozygous nonsense mutation in the PVRL1 gene, in chromosome 11.

[citation needed] There is no specific treatment or cure for individuals affected with this type of syndrome, though some of the abnormal physical features may be surgically correctable.