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Abdominal - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 10 August 2022

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Abdominal wall defect

An abdominal wall abnormality is an opening in the abdomen through which various abdominal organs can protrude. Individuals with omphalocele often have multiple birth defects, such as a congenital heart abnormality. As a result, many infants with omphalocele have respiratory distress, and may need to be aided with a machine to help them breathe. Infancy is unusually prone to recurrent lung infections or asthma later in life. Large omphaloceles or those related with multiple health disorders are more frequently associated with fetal death than cases in which omphalocele occurs alone. Nearly half of people with omphalocele have an obstructive disorder caused by an extra copy of one of the chromosomes in each of their cells. Up to one-third of people born with omphalocele have a genetic disorder called Beckwith-Wiedemann syndrome. Individuals with gastroschisis have no other birth defects and seldom have chromosome abnormalities or a genetic disorder. Organ injury can also result from organ injury. Constriction around exposed organs at the abdominal wall opening late in fetal growth may also lead to organ injury. In most children with gastroschisis, intestinal damage leads to reduced muscle contractions that move food through the digestive tract. If an individual with gastroschisis is pregnant, it is likely that his or her intestine was damaged before birth. The vast majority of people with no health problems related to the repaired defect were found after the abdominal wall defect is fixed and normal intestinal function is restored.

Source link: https://medlineplus.gov/genetics/condition/abdominal-wall-defect


Cyclic vomiting syndrome

Cyclic vomiting syndrome is a condition that causes recurrent episodes of nausea, vomiting, and exhaustion. Several times per hour is a common occurrence of a dangerous loss of fluids. However, many affected people have other signs during and between episodes, including pain, lethargy, digestive disorders such as gastroesophageal reflux and irritable bowel syndrome, and fainting spells. People with cyclic vomiting syndrome are also more likely than people without the condition to experience depression, anxiety, and panic disorders than people without the condition. It's unclear if these health problems are specifically related to nausea and vomiting. Cyclic vomiting syndrome is often thought of as a form of migraines, which are severe headaches often associated with nausea, vomiting, and extreme sensitivity to light and sound. Cyclic vomiting syndrome is likely to be similar to or closely related to a disorder called abdominal migraine, which is characterized by stomach pains and cramping. As an affected person gets older, migraine headaches, vomiting, or abdominal pain in childhood may be replaced by migraine headaches. Many people with cyclic vomiting syndrome or abdominal migraine have a family history of migraines. Most people with cyclic vomiting syndrome have normal intelligence, though some affected individuals have developmental delay or intellectual disability. Autism spectrum disorder, which affects communication and social interaction, has also been linked to cyclic vomiting syndrome. People with any of these additional features are expected to have cyclic vomiting syndrome plus.

Source link: https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome


Retroperitoneal fibrosis

Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue occur in the back of the abdominal cavity, behind the membrane that surrounds the digestive organs. Some signs of the lower body blockage include blockage of blood supply to and from various areas of the body's lower body as a result of scar tissue around blood vessels. The fibrosis often develops first around the aorta, the large blood vessel that distributes blood from the heart to the remainder of the body. Reduced blood circulation back to the heart in men can cause scrotal swelling in men. Since the kidneys are located in the retroperitoneal space, retroperitoneal fibrosis can result in blockage of the ureters, which are tubes that transport urine from each kidney to the bladder.

Source link: https://medlineplus.gov/genetics/condition/retroperitoneal-fibrosis


Desmoid tumor

Most often, a single tumor arises, but some people have multiple tumors. paraphrased tumors that develop in the abdominal wall are classified as abdominal desmoid tumors; those that arise from the skin connecting the abdominal organs are called intraabdominal desmoid tumors; and tumors discovered in other regions of the body are described as extra-abdominal desmoid tumors. Desmoid tumors are fibrous, similar to scar tissue. Pain is the most common symptom of desmoid tumors. Intra-abdominal desmoid tumors can block the bowel, leading to constipation. Extra-abdominal desmoid tumors can limit the mobility of affected joints and cause limping or difficulty walking the arms or legs. Desmoid tumors are common in people with an inherited form of colon cancer, familial adenomatous polyposis. Desmoid tumors that are not related to an inherited disease are described as sporadic.

Source link: https://medlineplus.gov/genetics/condition/desmoid-tumor


Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is a condition that affects multiple organs of the body. Specific body regions in some children with Beckwith-Wiedemann syndrome may become abnormally large on one side of the body, resulting in an asymmetric or uneven appearance. Beckwith-Wiedemann syndrome (BW) signs and symptoms vary among affected individuals. Some children with this disorder are born with an opening in the wall of the abdomen that allows the abdominal organs to protrude through the abdomen. Some infants with Beckwith-Wiedemann syndrome have an abnormally long tongue, which can cause difficulty in breathing, swallowing, and speaking. Children with Beckwith-Wiedemann syndrome are at an elevated risk of developing many types of cancerous and noncancerous tumors, including a kidney cancer variant named Wilms tumor and a form of liver cancer called hepatoblastoma. Beckwith-Wiedemann syndrome (British and Adult) – Most children and adults with Beckwith-Wiedemann syndrome have no health issues associated with the disorder.

Source link: https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome


Mevalonate kinase deficiency

Often with fever episodes, people with HIDS often have enlargement of the lymph nodes, abdominal pain, joint pain, diarrhea, skin rashes, and headache. People with HIDS often have a buildup of protein deposits in the kidneys that could lead to kidney disease. Immunizations, surgery, injury, or stress may have caused a Fever episode in people with HIDS. In the blood, atypically high amount of immune system proteins called immunoglobulin D and immunoglobulin A are present in most people with HIDS. Some people with HIDS have elevated IgD and IgA, while others do not. Individuals with HIDS do not have any signs and symptoms of the condition associated with fever episodes, and they have an ordinary life expectancy. People with MVA have signs and symptoms of the disease at all times, not just during fever episodes. Eye problems can cause inflammation of the eye, a blue tint in the white part of the eye, an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the eye's lens. Affected adults may have short stature and may suffer muscle weakness later in life. People with MVA may have an enlarged liver and spleen, lymphadenopathy, abdominal pain, diarrhea, and skin rashes during fever episodes. Children with MVA who are critically affected by multiple disorders may live only through early childhood, though mildly affected people may have a normal life expectancy.

Source link: https://medlineplus.gov/genetics/condition/mevalonate-kinase-deficiency


Wilms tumor

Wilms tumor is a form of kidney cancer that most commonly occurs in children. Nearly all cases of Wilms tumor are diagnosed before the age of ten, with two-thirds being discovered before age 5. It is often first detected due to abdominal swelling or a lump in the kidney that can be felt on physical examination. Some of the affected children have abdominal pain, fever, a low number of red blood cells, blood in the urine, or high blood pressure. Wilms tumors can arise in one or both kidneys. Wilms tumors can spread from the kidneys to other areas of the body. Children with Wilms tumor have a 90% survival rate after proper diagnosis. Individuals with Wilms tumor may have related health problems or late effects of their treatment in adulthood, such as reduced kidney function, heart disease, and the development of new cancers.

Source link: https://medlineplus.gov/genetics/condition/wilms-tumor


Systemic mastocytosis

Systemic mastocytosis is a blood disorder that can influence several organ systems. Extreme exhaustiness, skin redness and warmth, nausea, abdominal pain, bloating, diarrhea, the backflow of stomach acids into the esophagus, poor blood pressure, lightheadedness, and headache are all typical signs and symptoms of systemic mastocytosis. Many people with systemic mastocytosis suffer urticaria pigmentosa, a skin condition that is characterized by raised patches of brownish skin that sting or itch with contact or temperature changes. Nearly half of people with systemic mastocytosis will have severe allergic reactions. The most common systemsic mastocytosis types are the indolent and smoldering varieties. Individuals with smoldering mastocytosis may have more organs affected and more prominent characteristics than those with indolent mastocytosis. The indolent type of systemic mastocytosis is the most typical type of systemic mastocytosis. Systemic mastocytosis, systemic mastocytosis with an associated hematologic neoplasm, and mast cell leukemia are among the notable examples. A lack of bone tissue and multiple bone fractures are associated with aggressive systemic mastocytosis. Systemic mastocytosis with associated hematologic neoplasm and mast cell leukemia can be related to blood cell disorders or blood cell cancer. Mast cell leukemia is the rarest and most common form of systemic mastocytosis. People with the milder forms of the disease have a normal or near-normal life expectancy, while those with more severe symptoms have a shorter life expectancy.

Source link: https://medlineplus.gov/genetics/condition/systemic-mastocytosis


Caudal regression syndrome

Individuals affected by incomplete closure of the vertebrae around the spinal cord, a fluid-filled sac on the back of the skin that does or does not contain part of the spinal cord, or tufts of hair at the base of the spine may have incomplete closure. People with caudal regression syndrome may also have an abnormal side-to-side curvature of the spine. In some individuals, breathing difficulties may be related to the chest's size and shape, causing respiratory difficulties. Individuals with caudal regression syndrome may have short hip bones with a restricted range of motion. The legs' bones are typically underdeveloped, with the upper leg bones being the most prominent. Some people have a decreased sensation in their lower limbs. Abnormalities in the genitourinary tract of caudal regression syndrome are very variable. These kidney abnormalities may cause frequent urinary tract infections and progressive kidney disease. In addition, impacted individuals may have protrusion of the bladder through an opening in the abdominal wall. Symptoms of chronic urine flow, damage to bladder control nerves, which is a disorder called neurogenic bladder, can cause affected individuals to have increasing difficulty controlling urine flow. Males with reproductive abnormalities can include the urethra opening on the underside of the penis or undescended testes. People with caudal regression syndrome may have abnormal twisting of the large intestine, an obstruction of the anal opening, soft out-pouchings in the lower abdomen, or other gastrointestinal tract abnormalities.

Source link: https://medlineplus.gov/genetics/condition/caudal-regression-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions