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Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine. [ 1 ] [ 3 ] The most prominent symptom is constipation . [ 1 ] Other symptoms may include vomiting , abdominal pain , diarrhea and slow growth . [ 1 ]
Al-Gazali-Donnai-Mueller syndrome, also known as Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features syndrome [1] is a rare and deadly genetic disorder which is characterized by Hirschsprung's disease, nail and distal limb hypoplasia, flat facies, upslanting palpebral fissures, narrow philtrum, high palate, micrognathia and low-set ears.
A pull-through procedure is the definitive operation for Hirschsprung disease, involving the removal of the abnormal segment of bowel that has no nerves, pulling through the normal bowel and connecting it to the anus. Several types of pull-through procedures exist including the Soave, Swenson and Duhamel.
Hirschsprung disease is also known as congenital aganglionic megacolon, so Hirschsprung’s is a disease that’s present since birth, in which a ganglion, or cluster of nerves is missing, which ultimately leads to a blocked colon, causing it to enlarge.
Also called Hirschsprung's disease, it is a congenital disorder of the colon in which nerve cells of the myenteric plexus in its walls, also known as ganglion cells, are absent. It is a rare disorder (1:5000), with prevalence among males being four times that of females. Hirschsprung's disease develops in the fetus during the early stages of ...
Hirschsprung's disease: enlargement of the colon due to lack of development of autonomic ganglia. Intestinal neuronal dysplasia: a disease of motor neurons leading to the bowels. Bowel obstruction: mechanical or functional obstruction of the bowel, most commonly due to adhesions, hernias or neoplasms.
The changes in the KIAA1279 gene are expected to cause problems in nervous system development due to a loss of functioning protein product. This is shown by the KIAA1279 gene's connection to both Hirschsprung's disease and bilateral generalized polymicrogyria, characteristics of Goldberg-Shprintzen syndrome. [7]
Other neurological disorders may cause or contribute to ODS, such as dementia, [37] Parkinson's disease, [37] multiple sclerosis, [5] Hirschsprung disease, [5] acute cerebrovascular accident, [37] spinal lesion, [5] or spinal injury. [37] The rectoanal inhibitory reflex is inhibition of the internal anal sphincter.