Human genetic facial disorders

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Two- and three-dimensional CT reconstructions with VRT and bone and skin-surfacing are helpful for more accurate staging and the three-dimensional planning of mandibular and external ear reconstructive surgery. Percent of people who have these symptoms is not available through HPO. You may want to review these resources with a medical professional. Delayed development, happy, intellectual disability , speech problems, balance and movement problems, small head, seizures [2]. The external ear is sometimes small , rotated, malformed, or absent entirely in people with TCS. Textbook of Oral Medicine. Paul Kruszka, et al.
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Oral-facial-digital syndrome

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Oral-facial-digital syndrome - Genetics Home Reference - NIH

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Human genetic disease

The phenomenon of X inactivation prevents a female who carries two copies of the X chromosome in every cell from expressing twice the amount of gene products encoded exclusively on the X chromosome, in comparison with males, who carry a single X. In general, it can be said that risks of recurrence are not as great for multifactorial conditions as for single-gene diseases and that the risks vary with the number of relatives affected and the closeness of their relationship. Some genetic disorders are now known to result from mutations in imprinted genes. Cancer begins when cells grow when they shouldn't, and old cells don't die when they should.
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