Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
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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 | - |
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.
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.
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]
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According to OMIM, [6] 78 cases have been described in medical literature. [2] [4] [5] [7] [8]