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'''Aarskog-Scott 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. This syndrome effects both [[CTM]] and [[CTF]] individuals, however it is more likely to effect CTM individuals. Its rarity is unknown, as mild cases are theorized to go undiagnosed and without notice.
This syndrome can cause [[Agenital|cryptorchidism]], a misplaced clitoris (such as a clitoris that is below the vagina), and/or a [[Penoscrotal Transposition|shawl scrotum]], putting many with this syndrome on the intersex spectrum.<ref>{{Archive|URL=2022.02.12-100211/https://rarediseases.info.nih.gov/diseases/4775/aarskog-syndrome}}</ref>
80-99% of those with this syndrome have broad feet, short feet, broad palms, small hands, camptodactyly within a finger, umbilical hernia, short stature, widely spaced eyes, and a drooping lower lip.
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30-79% of those with this syndrome have a broad forehead, low set/rotated ears, external ear malformation, a wide nasal bridge, an upturned nasal tip, a long philtrum, a drooping upper eyelid, downslanting eyelids, cognitive impairment, and/or hyperelastic skin.
5-29% of those with this syndrome have abnormal vertebral segmentation and fusion, [[Neurodivergent|ADHD]], a cleft palate, a cleft lip, epicanthus, cross eyes, an enlarged cornea, delayed teeth growth, jaw abnormalities, a round face, a short neck, a funnel chest, cardiac failure, a back knee, and/or flat feet.
Those with this syndrome may or may not experience a delayed puberty
== Causes ==
Mutations in the ''FGD1'' gene are the only known genetic cause of Aarskog-Scott syndrome. The ''FGD1'' gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of development before and after birth. This abnormality causes a change of genetic development, starting from in the fetal state. Only 20% have this mutation as the cause of the syndrome; it is unknown what causes this syndrome in individuals who do not ''FGD1'' gene mutations.<ref>{{Archive|URL=2022.02.12-100429/https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome/
== References ==
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[[Category:Intersex Traits]]
[[Category:Verified Resources]]
[[Category:Flagless Sexes]]
[[Category:Pages With No History Section]]
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