Techniques The diagnosis of<unk>  is based upon a clinical evaluation, a detailed patient history, and identification of characteristic features. Molecular genetic testing for mutations in the HDAC8 gene is now available to confirm the diagnosis. Criteria The<unk>  is characterized by mild to moderate range of intellectual disability, obesity, tapered fingers, and mood swings. Males also suffer from gynecomastia and hypogonadism. In order to be diagnosed with<unk> , male patients must suffer from intellectual disability, obesity, and gynecomastia. Females do not necessarily have to have noticeable phenotype but can be diagnosed with this disorder by studying her family history and identifying others with the disorder. It has been noted that children with<unk>  will display speech development delay and excessive drooling. Males can be confirmed by testing androgen levels. Female carriers will show silencing of the gene a complex X inactivation. Family and medical history Family medical history is studied in depth due to its X-linked inheritance. The families that were studied and diagnosed with<unk>  have shown X-linked recessive pedigree pattern. This disorder only have been identified in two families, thus there is still ongoing studies concerning other inherited factors that may contribute to this disorder.
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