Syndrome, Hecht
Inherited disorder transmitted as an autosomal dominant trait in which short tight muscles make it impossible to open the mouth fully or keep the fingers straight when the hand is flexed back. The small mouth creates feeding problems. The hands may be so tightly fisted the infant crawls on the knuckles. Also called the trismus pseudocamptodactyly syndrome.
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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 […]
- 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 […]