Pathophysiology The primary symptoms of<unk>  is believed to result from an improperly developed histone deacetylase 8. This enzyme is coded by the HDAC8 gene. The identified mutation in the HDAC8 gene leads to a version of histone deacetylase 8 that is missing a segment. Histone deacetylase 8 is believed to be a regulator of the cohesion complex, playing a role in stabilizing the cell’s genetic information, repairing damaged DNA, and controlling gene activity. This abnormally shortened protein alters gene regulations during the individual’s normal development. Some of the effected normal development lies in the endocrine system. Males will have more estrogen and androgen than normal, leading to enlarged hypogonadism and gynecomastia. Other abnormal development is related to general mental capacity. HDACs are known to be associated with human brain development disorders. HDAC8, in particular, represses transcription factors in neural crest cells to control various patterns of the skull. This contributes to the various forms of facial deformities in individuals with<unk> . Some of the facial deformities caused by the HDAC8 include prominent supraorbital ridges and high cheekbones. Researchers also contribute the error in the HDAC8 gene to obesity. Since the HDAC family proteins are involved in changes in the gene expression in the hypothalamus, it is also believed that the individual’s metabolism conditions are altered.
Wilson–Turner syndrome
Smith–Magenis syndrome
Wilson–Mikity syndrome
Kapur–Toriello syndrome
Parsonage–Turner syndrome
Rabson–Mendenhall syndrome
Malouf syndrome
Beckwith–Wiedemann syndrome