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[[File:Charge syndrome.jpg|thumb|The CHARGE Syndrome flag.|200x200px]] |
[[File:Charge syndrome.jpg|thumb|The CHARGE Syndrome flag.|200x200px]] |
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'''CHARGE Syndrome''' is a |
'''CHARGE Syndrome''' is a syndrome that - in some cases - may be considered an [[intersex]] variation, although many would say it ''causes'' intersex traits rather than being one in of itself. CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 newborns. |
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This syndrome can cause a [[Agenital|missing or undescended testicle, a micropenis]], and/or [[hypospadias]] in [[CTM]]/[[AMAB]] individuals. In both CTM/AMAB and [[CTF]]/[[AFAB]], [[hypogonadism]] may occur. |
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Other symptoms that often occur include a gap or hole in one of the structures of the eye, abnormally small eyes, underdeveloped eyes, narrowed nasal passages, swallowing issues, facial paralysis, a diminished or absent sense of smell, inner ear abnormalities, hearing abnormalities, an unusually shaped ear, and a square faced shape. |
Other symptoms that often occur include a gap or hole in one of the structures of the eye, abnormally small eyes, underdeveloped eyes, narrowed nasal passages, swallowing issues, facial paralysis, a diminished or absent sense of smell, inner ear abnormalities, hearing abnormalities, an unusually shaped ear, and a square faced shape. |
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Less common features include kidney abnormalities, immune system abnormalities, scoliosis, finger or toe abnormalities, an upward turning foot, and longer than usual bones. |
Less common features include kidney abnormalities, immune system abnormalities, scoliosis, finger or toe abnormalities, an upward turning foot, and longer than usual bones. |
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It is important to note that not all the symptoms listed in this page are guaranteed to occur in someone with this |
It is important to note that not all the symptoms listed in this page are guaranteed to occur in someone with this syndrome, as someone may only experience one or several of these symptoms, yet still hold the syndrome. |
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== Causes == |
== Causes == |
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This syndrome is caused by mutations of the ''CHD7'' gene. The ''CHD7'' gene rovides instructions for making a protein that regulates gene activity, so when it is mutated, ones DNA is less packed than it is supposed to be. |
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== Flag == |
== Flag == |