This condition is caused by a mutation in the ASXL3 gene, which is considered a de novo mutation. Genetic changes that are described as de novo (new) mutations can be either hereditary or somatic. In some cases, the mutation occurs in a person's egg or sperm cell but is not present in any of the person's other cells. In other cases, the mutation occurs in the fertilized egg shortly after the egg and sperm cells unite. (It is often impossible to tell exactly when a de novo mutation happened.) As the fertilized egg divides, each resulting cell in the growing embryo will have the mutation. De novo mutations may explain genetic disorders in which an affected child has a mutation in every cell in the body but the parents do not, and there is no family history of the disorder. This condition is inherited in an autosomal dominant fashion. Mutations in the Additional Sex Combs Like 3 (ASXL3) gene on the long arm of chromosome 18 (18q12.1) have been associated with this condition.
Bainbridge-Ropers Syndrome
Baller–Gerold syndrome
Achard–Thiers syndrome
Lelis syndrome
Lamb-Shaffer syndrome
Lachiewicz–Sibley syndrome
Elejalde syndrome
Bart–Pumphrey syndrome