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SCARF Syndrome is an extremely rare intersex variation that estimated to effect one in a million newborns. It can effect both CTM and CTF children alike.

In both CTF and CTM individuals, physical symptoms may include loose skin, a small chin, a drooping eyelid, unaligned eyes, eyefolds, high/broad nasal roots, teeth defects, neck webs, short necks, abnormal chest shapes, small nipples, a short sternum, umbilical hernia, diastasis recti, abnormal vertebrae, abnormal skulls, turned ears, sparse hair, abnormal nails, and joint flexibility. They are often described as appearing "elderly" due to their physical appearance.

In CTF individuals, clitoromegaly and ambiguous genitalia is common. In CTM individuals, cryptorchidism, micropenises, clefts in the scrotum, hypospadias, and ambiguous genitalia is common as well.

Individuals with this variation often also fall on the autism spectrum or otherwise be neurodivergent in some shape or form.

It is important to note that not all the symptoms listed in this page are guaranteed to occur in someone with this variation, as someone may only experience one or several of these symptoms, yet still hold the variation.

Causes

The specific cause of this variation is unknown, however it is deemed to be genetic in nature. Many believe it is likely transmitted through both dominant and recessive genes from the parents, meaning both parents likely have at least one gene with this variation.

Resources

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