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 Round face
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