Ehlers-Danlos syndrome, dermatosparaxis type

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Ehlers-Danlos syndrome, dermatosparaxis type

Ehlers-Danlos syndrome, dermatosparaxis type

A genetic disorder characterized by extremely fragile and sagging skin caused by mutation in the ADAMTS2 gene. People with this form of Ehlers-Danlos syndrome have soft, doughy skin that is very fragile and bruises easily. The skin sags and wrinkles, and extra (redundant) folds of skin may be present as children get older. Joints are very loose, which can delay the development of motor skills such as sitting, standing, and walking. Infants with the condition are born with a soft out-pouching called a hernia around the belly-button. Other symptoms include a small chin, a blue tinge to the part of the eyeball that is usually white (the sclera), and mild overgrowth of body hair.

RELATED TERMS
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Genetic
Hereditary. Having to do with the genes.

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).

Mutation
A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals.

ADAMTS2
"A gene that encodes a metalloproteinase enzyme. This enzyme is responsible for processing type I, type II, and type V procollagen proteins. Procollagens are the precursors of collagens, the proteins that add strength and support to many body tissues. Specifically, this enzyme clips a short chain of amino acids off of one end of the procollagen. The clipping step is necessary for proper assembly and function of collagen molecules. Mutations in the ADAMTS2 gene have been identified in patients with Ehlers-Danlos syndrome, dermatosparaxis type. These mutations greatly reduce the production of the enzyme made by ADAMTS2. Procollagen cannot be processed correctly without this enzyme. As a result, type I collagen fibrils are not assembled properly; they appear ribbon-like and disorganized under the microscope. Cross-links, or chemical interactions, between collagen fibrils are also affected. These defects weaken connective tissue, particularly in the skin, which causes the symptoms of the disorder. The ADAMTS2 gene is located on the long (q) arm of chromosome 5 at the end (terminal) of the arm. ADAMTS2 stands for A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 2."

Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.

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.

Development
The process of growth and differentiation.

Condition
The term "condition" has a number of biomedical meanings including the following: 1.An unhealthy state, such as in "this is a progressive condition." 2.A state of fitness, such as "getting into condition." 3.Something that is essential to the occurrence of something else; essentially a "precondition." 4.As a verb: to cause a change in something so that a response that was previously associated with a certain stimulus becomes associated with another stimulus; to condition a person, as in behavioral conditioning.

Hernia
The part of an internal organ that pushes through an opening in the organ's wall.

Chin
Medically, the mentum. The lower portion of the face below the lower lip including the prominence of the lower jaw and the line of fusion of the two separate halves of the jawbone (mandible). This line of fusion (called the symphysis menti) encloses a triangular area at tip of the chin (termed the mental protuberance). On each side, below the second premolar tooth, is the mental foramen, an opening for the passage of blood vessels and a nerve that supply the chin.

SIMILAR TERMS
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Ehlers Danlos Syndrome
Group of inherited disorders of connective tissue characterised by hypermobility of joints, atrophic scar formation, loss of skin elasticity and easy bruising.

Ehlers-Danlos syndrome
A heritable disorder of connective tissue with easy bruising, joint hypermobility (loose joints), skin laxity, and weakness of tissues. There are a number of different types of Ehlers-Danlos syndrome (EDS) which share the foregoing features but can be categorized into at least nine different types.

PREVIOUS AND NEXT TERMS
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Efferent vessel
A vessel carrying blood away from the heart. An artery or arteriole.

EGD
Esophagogastroduodenoscopy.

EGF
Epidermal growth factor. A polypeptide (small protein) that is a powerful mitogen. (It stimulates cells to enter mitosis, cell division. ) EGF promotes cell growth and differentiation, is essential in embryogenesis, and is important in wound healing. It is produced by many normal cell types and is made in large amounts by some tumors. The EGF gene is on chromosome 4q25 (whereas the gene for its receptor, EGFR, is on chromosome 7). The kidney is the main source of circulating EGF. EGF is also known as urogastrone (URG).

Egg sac
The "egg sac" or ovary is one of a pair of reproductive glands in women. They are located in the pelvis, one on each side of the uterus. Each ovary is about the size and shape of an almond. The ovaries have two functions: production of eggs (ova) and female hormones. Each month, during the menstrual cycle, an egg is released from one ovary. The egg travels from the ovary through a fallopian tube to the uterus.

Ehlers-Danlos syndrome
A heritable disorder of connective tissue with easy bruising, joint hypermobility (loose joints), skin laxity, and weakness of tissues. There are a number of different types of Ehlers-Danlos syndrome (EDS) which share the foregoing features but can be categorized into at least nine different types.

Ehlers-Danlos syndrome, dermatosparaxis type

Ehrlichiosis
An acute (abrupt onset) disease, clinically similar to Rocky Mountain spotted fever with high fever, headache, malaise, and muscle pain but without a rash. Laboratory features include leukopenia (low white blood cell count), thrombocytopenia (low platelet count), mild anemia, and elevation in the levels of hepatic aminotransferase enzymes. Clinical symptoms and laboratory abnormalities respond promptly to therapy with the antibiotics tetracycline or doxycycline, and the majority of patients become afebrile within 24 to 48 hours after the start of such treatment. The diagnosis of ehrlichiosis rests on the detection of ehrlichia either by direct means or by the indirect means of serologic studies. Three methods are available for detection: inspection of peripheral-blood smears, PCR testing, and tissue culture.

Eicosapentaenoic acid
One of the principal omega-3 fatty acids. Abbreviated EPA. The body has a limited ability to manufacture EPA by converting the essential fatty acid, alpha-linolenic acid (ALA) which is found in flaxseed oil, canola oil or walnuts.

Eight-day measles
An acute highly contagious viral disease with fever, runny nose, cough, red eyes, and a spreading skin rash. The eight-day measles is the ordinary measles, also known as rubeola, a potentially disastrous disease. Measles may be complicated by ear infections, pneumonia, encephalitis (that can cause convulsions, mental retardation. and even death), the sudden onset of low blood platelet levels with severe bleeding (acute thrombocytopenic purpura) or a chronic brain disease that occurs months to often years after an attack of measles (subacute sclerosing panencephalitis). During pregnancy measles may trigger miscarriages or premature delivery. Measles can be prevented through vaccination. The disease is also called the hard measles and (depending on how long you think it lasts) the seven- day measles, the nine-day measles, or the ten-day measles, and morbilli.

Eighth cranial nerve
The eighth cranial nerve is the vestibulocochlear nerve. The vestibulocochlear nerve is responsible for the sense of hearing and it is also pertinent to balance, to the body position sense. Problems with the vestibulocochlear nerve may result in deafness, tinnitus (ringing or noise in the ears), dizziness, vertigo and vomiting. The 12 cranial nerves, the vestibulocochlear nerve included, emerge from or enter the skull (the cranium), as opposed to the spinal nerves which emerge from the vertebral column.

Eisoptrophobia
An abnormal and persistent fear of mirrors. Sufferers experience undue anxiety even though they realize their fear is irrational. Because their fear often is grounded in superstitions, they may worry that breaking a mirror will bring bad luck or that looking into a mirror will put them in contact with a supernatural world inside the glass.

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This dictionary contains 25007 terms.

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syndrome, dermatosparaxis type / ehlerx-danlos syndrome, dermatosparaxis type / ehlerz-danlos syndrome, dermatosparaxis type / ehlera-danlos syndrome, dermatosparaxis type / ehlerq-danlos syndrome, dermatosparaxis type / ehlers=danlos syndrome, dermatosparaxis type / ehlers[danlos syndrome, dermatosparaxis type / ehlerspdanlos syndrome, dermatosparaxis type / ehlers0danlos syndrome, dermatosparaxis type / ehlers-eanlos syndrome, dermatosparaxis type / ehlers-ranlos syndrome, dermatosparaxis type / ehlers-fanlos syndrome, dermatosparaxis type / ehlers-vanlos syndrome, dermatosparaxis type / ehlers-canlos syndrome, dermatosparaxis type / ehlers-xanlos syndrome, dermatosparaxis type / ehlers-sanlos syndrome, dermatosparaxis type / ehlers-wanlos syndrome, dermatosparaxis type / ehlers-dqnlos syndrome, dermatosparaxis type / ehlers-dwnlos syndrome, dermatosparaxis type / ehlers-dsnlos syndrome, dermatosparaxis type / ehlers-dxnlos syndrome, dermatosparaxis type / ehlers-dznlos syndrome, dermatosparaxis type / ehlers-dablos syndrome, dermatosparaxis type / ehlers-dahlos syndrome, dermatosparaxis type / ehlers-dajlos syndrome, dermatosparaxis type / ehlers-damlos syndrome, dermatosparaxis type / ehlers-da los syndrome, dermatosparaxis type / ehlers-danoos syndrome, dermatosparaxis type / ehlers-danpos syndrome, dermatosparaxis type / ehlers-dan;os syndrome, dermatosparaxis type / ehlers-dan.os syndrome, dermatosparaxis type / ehlers-dan,os syndrome, dermatosparaxis type / ehlers-dankos syndrome, dermatosparaxis type / ehlers-danios syndrome, dermatosparaxis type / ehlers-danl9s syndrome, dermatosparaxis type / ehlers-danl0s syndrome, dermatosparaxis type / ehlers-danlps syndrome, dermatosparaxis type / ehlers-danlls syndrome, dermatosparaxis type / ehlers-danlks syndrome, dermatosparaxis type / ehlers-danlis syndrome, dermatosparaxis type / ehlers-danl8s syndrome, dermatosparaxis type / ehlers-danlow syndrome, dermatosparaxis type / ehlers-danloe syndrome, 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fermatosparaxis type / ehlers-danlos syndrome, vermatosparaxis type / ehlers-danlos syndrome, cermatosparaxis type / ehlers-danlos syndrome, xermatosparaxis type / ehlers-danlos syndrome, sermatosparaxis type / ehlers-danlos syndrome, wermatosparaxis type / ehlers-danlos syndrome, d3rmatosparaxis type / ehlers-danlos syndrome, d4rmatosparaxis type / ehlers-danlos syndrome, drrmatosparaxis type / ehlers-danlos syndrome, dfrmatosparaxis type / ehlers-danlos syndrome, ddrmatosparaxis type / ehlers-danlos syndrome, dsrmatosparaxis type / ehlers-danlos syndrome, dwrmatosparaxis type / ehlers-danlos syndrome, de4matosparaxis type / ehlers-danlos syndrome, de5matosparaxis type / ehlers-danlos syndrome, detmatosparaxis type / ehlers-danlos syndrome, degmatosparaxis type / ehlers-danlos syndrome, defmatosparaxis type / ehlers-danlos syndrome, dedmatosparaxis type / ehlers-danlos syndrome, deematosparaxis type / ehlers-danlos syndrome, de3matosparaxis type / ehlers-danlos syndrome, dernatosparaxis type / ehlers-danlos syndrome, derjatosparaxis type / ehlers-danlos syndrome, derkatosparaxis type / ehlers-danlos syndrome, der,atosparaxis type / ehlers-danlos syndrome, der atosparaxis type / ehlers-danlos syndrome, dermqtosparaxis type / ehlers-danlos syndrome, dermwtosparaxis type / ehlers-danlos syndrome, dermstosparaxis type / ehlers-danlos syndrome, dermxtosparaxis type / ehlers-danlos syndrome, dermztosparaxis type / ehlers-danlos syndrome, derma5osparaxis type / ehlers-danlos syndrome, derma6osparaxis type / ehlers-danlos syndrome, dermayosparaxis type / ehlers-danlos syndrome, dermahosparaxis type / ehlers-danlos syndrome, dermagosparaxis type / ehlers-danlos syndrome, dermafosparaxis type / ehlers-danlos syndrome, dermarosparaxis type / ehlers-danlos syndrome, derma4osparaxis type / ehlers-danlos syndrome, dermat9sparaxis type / ehlers-danlos syndrome, dermat0sparaxis type / ehlers-danlos syndrome, dermatpsparaxis type / ehlers-danlos syndrome, dermatlsparaxis type / ehlers-danlos syndrome, dermatksparaxis type / ehlers-danlos syndrome, dermatisparaxis type / ehlers-danlos syndrome, dermat8sparaxis type / ehlers-danlos syndrome, dermatowparaxis type / ehlers-danlos syndrome, dermatoeparaxis type / ehlers-danlos syndrome, dermatodparaxis type / ehlers-danlos syndrome, dermatoxparaxis type / ehlers-danlos syndrome, dermatozparaxis type / ehlers-danlos syndrome, dermatoaparaxis type / ehlers-danlos syndrome, dermatoqparaxis type / ehlers-danlos syndrome, dermatos0araxis type / ehlers-danlos syndrome, dermatos-araxis type / ehlers-danlos syndrome, dermatos[araxis type / ehlers-danlos syndrome, dermatos;araxis type / ehlers-danlos syndrome, dermatoslaraxis type / ehlers-danlos syndrome, dermatosoaraxis type / ehlers-danlos syndrome, dermatos9araxis type / ehlers-danlos syndrome, dermatospqraxis type / ehlers-danlos syndrome, dermatospwraxis type / ehlers-danlos syndrome, dermatospsraxis type / ehlers-danlos syndrome, dermatospxraxis type / ehlers-danlos syndrome, dermatospzraxis type / ehlers-danlos syndrome, dermatospa4axis type / ehlers-danlos syndrome, dermatospa5axis type / ehlers-danlos syndrome, dermatospataxis type / ehlers-danlos syndrome, dermatospagaxis type / ehlers-danlos syndrome, dermatospafaxis type / ehlers-danlos syndrome, dermatospadaxis type / ehlers-danlos syndrome, dermatospaeaxis type / ehlers-danlos syndrome, dermatospa3axis type / ehlers-danlos syndrome, dermatosparqxis type / ehlers-danlos syndrome, dermatosparwxis type / ehlers-danlos syndrome, dermatosparsxis type / ehlers-danlos syndrome, dermatosparxxis type / ehlers-danlos syndrome, dermatosparzxis type / ehlers-danlos syndrome, dermatosparazis type / ehlers-danlos syndrome, dermatosparaais type / ehlers-danlos syndrome, dermatosparasis type / ehlers-danlos syndrome, dermatosparadis type / ehlers-danlos syndrome, dermatosparacis type / ehlers-danlos syndrome, dermatospara is type / ehlers-danlos syndrome, dermatosparaxs type / ehlers-danlos syndrome, dermatosparaxiw type / ehlers-danlos syndrome, dermatosparaxie type / ehlers-danlos syndrome, dermatosparaxid type / ehlers-danlos syndrome, dermatosparaxix type / ehlers-danlos syndrome, dermatosparaxiz type / ehlers-danlos syndrome, dermatosparaxia type / ehlers-danlos syndrome, dermatosparaxiq type / ehlers-danlos syndrome, dermatosparaxis 5ype / ehlers-danlos syndrome, dermatosparaxis 6ype / ehlers-danlos syndrome, dermatosparaxis yype / ehlers-danlos syndrome, dermatosparaxis hype / ehlers-danlos syndrome, dermatosparaxis gype / ehlers-danlos syndrome, dermatosparaxis fype / ehlers-danlos syndrome, dermatosparaxis rype / ehlers-danlos syndrome, dermatosparaxis 4ype / ehlers-danlos syndrome, dermatosparaxis t6pe / ehlers-danlos syndrome, dermatosparaxis t7pe / ehlers-danlos syndrome, dermatosparaxis tupe / ehlers-danlos syndrome, dermatosparaxis tjpe / ehlers-danlos syndrome, dermatosparaxis thpe / ehlers-danlos syndrome, dermatosparaxis tgpe / ehlers-danlos syndrome, dermatosparaxis ttpe / ehlers-danlos syndrome, dermatosparaxis t5pe / ehlers-danlos syndrome, dermatosparaxis ty0e / ehlers-danlos syndrome, dermatosparaxis ty-e / ehlers-danlos syndrome, dermatosparaxis ty[e / ehlers-danlos syndrome, dermatosparaxis ty;e / ehlers-danlos syndrome, dermatosparaxis tyle / ehlers-danlos syndrome, dermatosparaxis tyoe / ehlers-danlos syndrome, dermatosparaxis ty9e / ehlers-danlos syndrome, dermatosparaxis typ3 / ehlers-danlos syndrome, dermatosparaxis typ4 / ehlers-danlos syndrome, dermatosparaxis typr / ehlers-danlos syndrome, dermatosparaxis typf / ehlers-danlos syndrome, dermatosparaxis typd / ehlers-danlos syndrome, dermatosparaxis typs / ehlers-danlos syndrome, dermatosparaxis typw /