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Individuals with PKS present prenatally or at birth with multiple birth defects.These defects include: brain atrophy, agenesis of the corpus callosum, polymicrogyria of the brain, and/or spot calcifications in the brain's lateral sulcus; deafness and/or blindness; autonomic nervous system dysfunctions such as anhidrosis, hypohidrosis, and/or episodic spells of hyperventilation interspersed ...
This list is incomplete; you can help by adding missing items. ( May 2016 ) Fetal abnormalities are conditions that affect a fetus or embryo , are able to be diagnosed prenatally, and may be fatal or cause disease after birth.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Serpentine fibula-polycystic kidney syndrome; Sertoli cell-only syndrome; Serum sickness–like reaction; Setleis syndrome; Severe acute respiratory syndrome; Shaken baby syndrome; Shapiro syndrome; Sheehan's syndrome; Shell nail syndrome; Shone's syndrome; Short anagen syndrome; Short bowel syndrome; Short man syndrome; Short QT syndrome ...
Cat eye syndrome; Caudal regression syndrome; Sotos syndrome Cerebral Gigantism; CHARGE syndrome; Chromosome 16 abnormalities; Chromosome 18 abnormalities; Chromosome 20 abnormalities; Chromosome 22 abnormalities; Cleft lip/palate; Cleidocranial dysostosis; Club foot; Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome
Photos of what pregnancy tissue from early abortions at 5 to 9 weeks actually looks like have gone viral.. The images, which were originally shared by MYA Network — a network of physicians who ...
Considering the names of all three researchers, it is sometimes also called Klinefelter–Reifenstein–Albright syndrome. [57] In 1956, Klinefelter syndrome was found to result from an extra chromosome. [58] Plunkett and Barr found the sex chromatin body in cell nuclei of the body.
This article provides a list of autoimmune diseases. These conditions, where the body's immune system mistakenly attacks its own cells, affect a range of organs and systems within the body. Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed ...