Al Kaissi Syndrome (ALKAS)
Al Kaissi Syndrome (ALKAS)
OMIM number: 617694
Comments closing date: 29/08/2025
Al Kaissi Syndrome is an autosomal recessive
condition characterised by growth retardation,
spinal development issues, moderate to severe
intellectual disability, delayed psychomotor
development and abnormal facial features. Those
affected have low weight and short stature, with a
variety of facial deformities including small chin,
low set ears, wide set eyes and notably smaller
heads. Patients suffer moderate to severe
intellectual disability and delayed psychomotor
development and language delay, causing
debilitating effects on day to day life and often
rendering them unable to function independently
without a level of care. Patients can also suffer
from seizures. Some affected individuals also
have atrial septal defects which can further slow
growth and development. These children are also
susceptible to heart and lung infections, shortness
of breath and fatigue.
Review date: 25 July 2027
