DOORS Syndrome

Summarized by Plex Health
Last Updated: 02 May 2022
the genetic basis of doors syndrome: an exome-sequencing study. "the genetic basis of doors syndrome: an exome-sequencing study.", by Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM. fig2: Physical features of participants with TBC1D24 mutations(A–F) Some individuals have a wide base of the nose and bulbous end of the nose (individual numbers from tables corresponding to each panel: A=3, B=6, C=5a, D=2b,...

DOORS syndrome is a disorder including several problems that exist from birth. Some people with DOORS syndrome do not have every one of these features. Lots of people with DOORS syndrome have extensive hearing loss brought on by changes in the internal ears. The nail problems impact both the hands and the feet in DOORS syndrome. Some affected individuals have an additional bone and joint in their thumbs, causing the thumbs to look more like the other fingers. The seizures that occur in people with DOORS syndrome usually start in infancy. Other features that can occur in people with DOORS syndrome consist of uncommonly small head dimension and face differences, most typically a vast, spheric nose. A slim or high arched roofing of the mouth, broadening of the ridges in the upper and lower jaw which contain the outlets of the teeth, or reducing of the membrane between the flooring of the tongue and the mouth have also been observed in some affected people. People with DOORS syndrome may have dental abnormalities, structural irregularities of the heart or urinary system tract, and unusually low levels of thyroid hormones. Most affected individuals have higher-than-normal degrees of a substance called 2-oxoglutaric acid in their urine; these degrees can vary between elevated and normal.

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