Clinical Characteristics

The syndrome caused by mutations in the CDK10 gene is a very rare condition. Children with CDK10-related syndrome manifest psychomotor delay, then intellectual disability. They display a retardation of growth and may have recognizable facial characteristics including a triangular face with a small pointed chin, low-set and posteriorly rotated ears, a wide nasal base, a long philtrum, a mild ptosis, telecanthus, and epicanthal folds. Spine malformations of cervical vertebrae seem very specific. Other structural brain or heart malformations (corpus callosum hypoplasia) can be associated.

Most children start walking independently between 2 and 4 years of age. A pronounced language delay is observed and occasionally, children do not develop speech at all.

The degree of intellectual disability ranges from moderate to severe.