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FAO deficiency
FAO deficiency Also known as the Sjogren-Larsson syndrome, this is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish-like skin), spastic paraplegia (spasticity of the legs) and mental retardation. The skin changes in the Sjogren-Larsson syndrome are similar to those in congenital ichthyosiform erythroderma, a genetic disease that results in fish-like, reddened skin. Hyperkeratosis (thickening of the skin) is a regular feature. Ecchymoses (bruises) are present at birth or soon after in the Sjogren-Larsson syndrome. Sweating is normal.
RELATED TERMS--------------------------------------
Syndrome
A grouping of signs and symptoms, based on their frequent co-occurrence, that may suggest a common underlying pathogenesis, course, familial pattern, or treatment selection.
Genetic
Hereditary. Having to do with the genes.
Disease
Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.
Triad
Triad is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): acetaminophen; butalbital; caffeine.
Clinical
That which can be observed in patients. Research that uses patients to test new treatments, as opposed to laboratory testing or research in animals.
Ichthyosis
An inherited skin disorder that produces dry, rough, scaly skin.
Paraplegia
Paraplegiai nvolves a loss of sensation and movement in the legs and in part or all of the trunk. This varies according to the level of the injury. Generally, the lower the injury, the less the loss of movement and sensation. Paraplegia usually results from an injury to the spinal cord in the mid and lower back.
Retardation
Delay or halt of any process such as mental or physical development.
Skin
Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat).
Congenital
Present at birth.
SIMILAR TERMS--------------------------------------
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Family physician
A physician who is educated and trained in family practice.
Family practice
The medical specialty which provides continuing and comprehensive health care for the individual and family. It is the specialty in breadth which integrates the biological, clinical, and behavioral sciences. The scope of family practice encompasses all ages, both sexes, each organ system, and every disease entity.
Family therapy
A type of psychotherapy designed to identify family patterns that contribute to a behavior disorder or mental illness and help family members break those habits. Family therapy involves discussion and problem-solving sessions with the family. Some of these sessions may be as a group, in couples, or one on one. In family therapy, the web of interpersonal relationships is examined and, ideally, communication is strengthened within the family.
Family, gene
A group of genes related in structure and often in function. The genes belonging to a gene family are descended from an ancestral gene. For example, the hemoglobin genes of critical importance to red blood cells belong to one gene family created by gene duplication (making extra copies of a gene) and divergence (divergent changes in the copies of the gene).
Fantod
A state of nervous anxiety or irritability. Also an irritable outburst. Pronounced fan-todd.
FAO deficiency
FAP
Familial adenomatous polyposis, a prominent hereditary colon cancer syndrome.
FAS
1. Fetal alcohol syndrome. 2. The FAS gene.
Fasciitis, eosinophilic (Shulman syndrome)
A disease which leads to inflammation and thickening of the skin and fascia. (The fascia is a lining tissue under the skin that covers a surface of underlying tissues. When the fascia is inflamed, the condition is referred to as "fasciitis.") In eosinophilic fasciitis, the involved fascia is inflamed with the eosinophil white blood cells. There is progressive thickening, and often redness and warmth, and hardness of the skin surface.
Fasciitis, plantar
Inflammation of the plantar fascia (fasciitis), the "bowstring-like" tissue stretching from the heel underneath the sole. Plantar fasciitis is often due to a bony spur projecting from the underside of the heel that makes walking painful. Spurs under the sole (plantar area) typically cause localized tenderness and pain that is made worse by stepping down on the heel.
Fascinoma
Medical slang for a fascinating case, usually involving a rare disease.
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