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.
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
|---|---|
| Other names | Intellectual disability-craniofacial anomalies-cardiac defects syndrome, Arboleda-Tham syndrome, KAT6A syndrome, autosomal dominant intellectual disability 32, (obsolete) autosomal dominant mental retardation 32 |
| Specialty | Medical genetics |
| Symptoms | Multi-systemic |
| Complications | Death with untreated cardiac defects |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Poor if untreated |
| Frequency | Rare, only 78 cases have been described in medical literature. |
| Deaths | - |
Symptoms within people with the disorder vary, but they are generally the following:[1]
Less common symptoms include craniosynostosis, autism, sleep disturbance, epilepsy, recurrent viral infections.
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.[citation needed]
This condition is caused by heterozygous mutations in the KAT6A gene, in chromosome 8.[2][3] These mutations are often sporadic, and are either frameshift,[4] missense, and nonsense.[5]
Diagnosis of the disorder is established by gene sequencing.[1]
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.[citation needed]
According to OMIM,[6] 78 cases have been described in medical literature.[2][4][5][7][8]