A disorder due to mutation of a gene responsible for connective tissue, the material that gives tissues form and strength. These mutations may change the structure and development of skin, bones, joints, heart, blood vessels, lungs, eyes, and ears. Some mutations also change how these tissues work. There are over 300 mutations affecting collagen, a protein found in skin, bone, cartilage, and all other connective tissues. Examples of heritable connective tissue disease include such conditions as Marfan syndrome, osteogenesis imperfecta, epidermolysis bullosa, Ehlers-Danlos syndrome.
- Hermansky-Pudlak syndrome
A group of genetic diseases characterized by a deficiency of pigment in the skin and eye, a bleeding tendency resulting from a platelet storage pool deficiency, and systemic disorders related to deficient function of lysosomes. Abbreviated HPS. Albinism that occurs in the eyes results in significant reduction in visual acuity. Pulmonary fibrosis and granulomatous colitis […]
A general term referring to a protrusion of a tissue through the wall of the cavity in which it is normally contained. Also known as rupture.
- Hernia repair
Also called a herniorrhaphy, a surgical repair of a hernia. Hernia repair may be done under local or general anesthesia using a conventional incision or a laparoscope. The alternative term “herniorrhaphy” comes from hernio-, referring to a hernia + the Greek rhaphe, a seam = putting a seam (or suture) in a hernia.
- Hernia, diaphragmatic
Passage of a loop of bowel through the diaphragm muscle. This type of hernia occurs as the bowel from the abdomen “herniates” upward through the diaphragm into the chest (thoracic) cavity. Diaphragmatic hernias may be congenital or acquired. Congenital diaphragmatic hernias are present at birth. They occur because of abnormal development of the embryo. Acquired […]
- Hernia, hiatus
Protrusion of the stomach up into the opening normally occupied by the esophagus in the diaphragm, the great dome of muscle that separates the thoracic (chest) cavity from the abdomen. Normally, the esophagus passes down through the chest, crosses the diaphragm, enters the abdomen through a hole in the diaphragm called the esophageal hiatus and […]