Witkop Syndrome

This week we will discuss Witkop Syndrome with Cheryl Kingsford. Cheryl is 44.5 years old, from Boise, Idaho, advocate, survivor of trauma, living with ectodermal dysplasia. Single, no kids of her own, but has cute chihuahua. She rescued Gina August 5, 2020 after fostering her since May 28, 2020. Gina and Cheryl go on a lot of hiking adventures. Cheryl has a Bachelor of Science in Psychology (Magna Cum Laude) from Boise State University 2010. First in her family. Does a lot of volunteer work over the years. Cheryl is the National Foundation for Ectodermal Dysplasia Family Driven Lead Advocate for Idaho. She is joining us today to talk about Ectodermal Dysplasia, Witkop's Syndrome, and for the "Ensuring Lasting Smiles Act"

Witkop is a rare syndrome that can affect the nails teeth and hair. Witkop syndrome is a rare autosomal dominant ectodermal dysplasia involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by Jumlongras et al., 2001).

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This month is Ectodermal Awareness month. Ectodermal dysplasias are rare genetic disorders that affect about 3 out of 10,000 babies. They cause the parts of the body like hair, teeth, nails, sweat glands and skin to develop and function abnormally. With more than 100+ different types of ectodermal dysplasias, it's challenging for families to find answers and for healthcare professionals to offer treatments or cures. Witkop Syndrome is one of these disorders and we are honored to be sharing Cheryl's story today.