Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic disorder which is characterized by multi-systemic symptoms primarily affecting the intellect and post-natal development.

Signs and symptoms
Symptoms within people with the disorder vary, but they are generally the following:

Intellectual

 * Intellectual disabilities

Developmental

 * Widespread developmental delays
 * Speech delays (which can sometimes last into adulthood)
 * Feeding difficulties

Intestinal

 * Acid reflux
 * Chronic constipation

Cardiac

 * Atrial septal defect
 * Ventricular septal defect
 * Patent foramen ovale
 * Persistent ductus arteriosus

Ocular

 * Strabismus
 * Amblyopia
 * Refractory errors

Facial

 * Broad nose
 * Thin upper lip
 * Bitemporal narrowing
 * Microcephaly

Less common symptoms include craniosynostosis, autism, sleep disturbance, epilepsy, recurrent viral infections.

Complications
Children with the disorder can often have various complications if the disorder goes unnoticed and untreated, for example, the cardiac defects can result in health problems and often, death, the behavioural problems can lead to an unstable (if it is existing) social life, low self esteem, and depression, the ocular problems can result in visual impairment, etc.

Causes
This condition is caused by heterozygous mutations in the KAT6A gene, in chromosome 8. These mutations are often sporadic, and are either frameshift, missense, and nonsense.

Diagnosis
Diagnosis of the disorder is established by gene sequencing.

Treatment
Treatment is done on the symptoms the condition causes, a few examples would include therapy sessions for the behavioral problems, corrective surgery for the cardiac defects, etc.

Epidemiology
According to OMIM, 78 cases have been described in medical literature.