Explore childhood epilepsy with centrotemporal spikes (CECTS), its diagnosis, and the role of genetic testing in identifying mutations, personalizing treatment plans, and…
Also called familial chondrocalcinosis, Chondrocalcinosis 2 starts in adulthood and passes on in an autosomal dominant pattern; ANKH testing can confirm it.
Inherited mutations behind hemochromatosis, Wilson's disease and alpha-1 antitrypsin deficiency can end in cirrhosis; biopsy and gene testing are covered.
Understand Cleidocranial Dysostosis—a rare genetic disorder affecting bones and teeth. Learn about diagnosis, genetic testing, treatment, and family planning.
Affecting about 1 in every 1,000 live births, this inward and downward twisting of the foot is identified on examination; gene testing is still emerging.
Clinical examination, X-rays, CT and MRI build the case, while finding a SEC24D mutation confirms Cole-Carpenter Syndrome 1 and guides care and counseling.
Missing tissue in or around the eye can blur or limit sight, and a single altered gene copy passes the trait on. Eye exams, OCT, MRI and DNA testing are described.
Incomplete closure of the embryonic fissure leaves a gap in the optic nerve, causing blurred vision and blind spots. Visual field tests, OCT and DNA analysis follow.