Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
# 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.

