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.

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

Epidemiology

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

References