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Medical genetics, pediatrics. Congenital diaphragmatic hernia ( CDH) is a birth defect of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni hernia, diaphragm eventration and central tendon defects of the diaphragm. Malformation of the diaphragm allows the abdominal organs to push into the chest ...
A congenital diaphragmatic hernia (CDH) is due to the abnormal development of the diaphragm while the fetus is forming. A defect in the diaphragm of the fetus allows one or more of their abdominal ...
Her research "relates to rare genetic conditions including the molecular genetics of obesity and diabetes in rodents and humans, the genetic basis of congenital heart disease, cardiomyopathies, arrhythmias, long QT Syndrome, pulmonary hypertension, endocrinopathies, congenital diaphragmatic hernias, esophageal atresia/tracheoesophageal fistula ...
Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia.A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant's diaphragm, allowing normally intra-abdominal organs (particularly the stomach and intestines) to enter into the thoracic cavity.
Cornelia de Lange Syndrome is a rare genetic disorder. Learn more about its symptoms, treatment, and prognosis. ... Congenital heart defects; Gastrointestinal diseases; Diaphragmatic hernias;
Congenital diaphragmatic hernia: This condition happens when a hole in the diaphragm restricts lung development due to abdominal content entering the chest through the hole. A surgery known as ...
Genetic. Simpson–Golabi–Behmel syndrome ( SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs.
Fryns syndrome. Other names. Diaphragmatic hernia-abnormal face-distal limb anomalies syndrome. Fryns syndrome is inherited in an autoosomal recessive manner. Specialty. Medical genetics. Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. [1]
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