Apert's syndrome
Last reviewed 01/2018
Apert's syndrome consists of:
- craniosynostosis
- midfacial hypoplasia
- syndactyly of 2 to 5 digits
The major cardiovascular manifestation that occurs with this syndrome is a ventricular septal defect.
Mental retardation and cleft palate are common sequelae.
Apert's syndrome is transmitted in an autosomal dominant manner. Most cases are the result of new mutations as the chance of reproduction is reduced. The underlying error is in the fibroblast growth factor receptor II, encoded on chromosome 10.
mental retardation (term that has been replaced by intellectual developmental disorder)