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Williams syndrome

Williams syndrome is a genetic disorder caused by a small deletion on chromosome 7q11.23 that includes the elastin gene. Elastin provides support to connective tissues like the skin, joints, and large arteries. Without enough elastin, the large arteries narrow, leading to issues like supravalvular aortic stenosis, which can lead to heart failure, renal artery stenosis, which can cause high blood pressure, and pulmonary artery stenosis, which can cause pulmonary hypertension. Patients with Williams syndrome often have intellectual disability, hearing loss, and kidney stones from high calcium levels. To remember elastin’s role in Williams syndrome, think of the dots on the 'i's as elastic bouncy balls. Now imagine that these balls collide with the sides of the 2 ‘L’s, which look like an artery. This action represents the narrowing of the aorta and renal arteries seen in Williams syndrome. In contrast to the narrowing of vessels on the inside, patients with Williams syndrome can have widening of various facial features on the outside. These include a wide forehead, widely set eyes, wide mouth, and widely-spaced teeth. For more information, please have a look at this GeneReviews article on Williams syndrome: https://www.ncbi.nlm.nih.gov/books/NB... Stay connected! Support our rare disease education efforts by subscribing to the StudyRare newsletter for monthly board-style questions: https://studyrare.substack.com/ 🔔 Don’t forget to like, subscribe, and hit the notification bell for more rare disease education! You can also support our work by subscribing to this channel, following StudyRare on X/Twitter (@studyrare), Instagram (@study_rare), or buying us a coffee: https://ko-fi.com/studyrare Learn more about our work at https://www.studyrare.com -Daniel