A complex of abnormal findings, namely sinking in of one eyeball, ipsilateral ptosis (drooping of the upper eyelid on the same side) and miosis (constriction of the pupil of that eye) together with anhidrosis (lack of sweating) and flushing of the affected side of the face. Due to paralysis of certain nerves (specifically, the cervical sympathetic nerves). Also called Horner-Bernard syndrome, Bernard syndrome, Bernard-Horner syndrome and Horner’s ptosis but far and away best known as Horner syndrome.
- Syndrome, Hurler
Hurler syndrome and Scheie syndrome. Hurler syndrome patients have progressive mental degeneration, gross facial features, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly (enlargement of the liver and spleen), valvular heart defects, thick skin, joint contractures, and hernias. Scheie syndrome patients have stiff joints, clouding of the cornea, aortic regurgitation (reflux through the aortic […]
- Syndrome, hypoplastic left heart
A form of congenital heart disease in which the whole left half of the heart (including the aorta , aortic valve, left ventricle and mitral valve) is underdeveloped (hypoplastic). Blood returning from the lungs has to flow through an opening in the wall between the upper chambers of the heart (an atrial septal defect). The […]
- Syndrome, ichthyosis-keratitis-deafness
See Keratitis-ichthyosis-deafness syndrome.
- Syndrome, incontinentia pigmenti
A genetic disease that begins soon after birth with the development of blisters on the trunk and limbs. These blisters then heal, but leave dark hyperpigmented streaks and marble-like whorls on the skin. Other key features include dental and nail abnormalities, bald patches and, in about one-third of cases, mental retardation. Incontinentia pigmenti (IP) is […]
- Syndrome, irritable bowel (IBS)
A common gastrointestinal disorder (also called spastic colitis, mucus colitis or nervous colon syndrome), IBS is an abnormal condition of gut contractions (motility) and gut sensation (hypersensitivity) characterized by abdominal pain/discomfort , bloating, mucous in stools, and irregular bowel habits with constipation or diarrhea or alternating diarrhea and constipation, symptoms that tend to be chronic […]