Al Kaissi syndrome

An autosomal recessive intellectual developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disabil

An autosomal recessive intellectual developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability that has_material_basis_in homozygous mutation in the CDK10 gene on chromosome 16q24.

Signs and symptoms

• Epicanthus
• Intellectual disability
• Posteriorly rotated ears
• Joint hypermobility
• Global developmental delay
• Low-set ears
• Long philtrum
• Broad nasal tip
• Delayed speech and language development
• Delayed ability to walk