Diseases

Dysostosis peripheral

Dysostosis peripheral: A rare condition characterized by malformed bones in the hands and feet. The severity of the malformation is variable.

Dysostosis Stanescu type

Dysostosis stanescu type (medical condition): A rare disorder involving abnormal bone and cartilage development.

Dysplasia epiphysealis hemimelica

A condition characterized by overgrowth of the epiphyseal cartilage on one of the hand or foot bones and occasionally on other bones.

Dysplastic nevus syndrome

A skin condition characterized by numerous atypical nevi and moles which may develop into melanomas. The nevi and moles vary in size, shape and color and tend to develop during adolescence or young adulthood.

Dysprothrombinemia

A rare disorder involving a deficiency of a protein (prothrombin or factor II) involved in blood clotting. The severity of symptoms vary according to the level of deficiency

Dysraphism cleft lip palate limb reduction defects

A very rare syndrome characterized mainly by an abnormal opening in the lip and palate, forearm abnormalities, spinal cord defects and an abnormal abdominal opening allowing the abdominal contents to protrude.

Dyssegmental dysplasia glaucoma

A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. The condition results in death during or soon after birth and is a more severe form of Rolland-Debuquois syndrome.

Dyssegmental dysplasia- Rolland-Desbuquois type

A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. Survival is possible past infancy. The condition is a less severe form of Silverman-Handmaker syndrome which is lethal.

Dystonia 12

A very rare syndrome involving the early start of symptoms of dystonia and parkinsonism. The onset of the symptoms usually occurs suddenly over weeks or even hours and then progresses slowly.

Synonims: Rapid-onset dystonia-parkinsonism, DYT 12, RDB.

Dystonia 15- myoclonic

A rare genetic movement disorder. The muscles contract involuntarily causing repetitive twisting and jerking movements. Type 15 is caused by a genetic defect on chromosome 18p11

Dystonia 6- torsion

A rare inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. Symptoms usually start in one limb and then spread to other limbs.

Dystonia musculorum deformans type 1

A rare movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. The trunk, neck and limbs are usually involved first.

Dystonia musculorum deformans type 2

A rare recessively inherited movement disorder where the patient suffers involuntary muscle contractions and distortion of body position. The hands and feet are usually involved first.

Dystonia- Dopa-responsive

A disorder characterized by dystonia of the lower limbs which becomes worse towards nighttime. The condition usually starts during childhood.

Dystrophic epidermolysis bullosa

Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems.

Researchers classify dystrophic epidermolysis bullosa into three major types. Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene.

Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (RDEB-HS) is the most severe, classic form of the condition. Affected infants are typically born with widespread blistering and areas of missing skin, often caused by trauma during birth. Most often, blisters are present over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to chew and swallow food, leading to chronic malnutrition and slow growth. Additional complications of progressive scarring can include fusion of the fingers and toes, loss of fingernails and toenails, joint deformities (contractures) that restrict movement, and eye inflammation leading to vision loss. Additionally, young adults with the classic form of dystrophic epidermolysis bullosa have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive and is often life-threatening.

A second type of autosomal recessive dystrophic epidermolysis bullosa is known as the non-Hallopeau-Siemens type (non-HS RDEB). This form of the condition is somewhat less severe than the classic type and includes a range of subtypes. Blistering is limited to the hands, feet, knees, and elbows in mild cases, but may be widespread in more severe cases. Affected people often have malformed fingernails and toenails. Non-HS RDEB involves scarring in the areas where blisters occur, but this form of the condition does not cause the severe scarring characteristic of the classic type.

The third major type of dystrophic epidermolysis bullosa is known as the autosomal dominant type (DDEB). The signs and symptoms of this condition tend to be milder than those of the autosomal recessive forms, with blistering often limited to the hands, feet, knees, and elbows. The blisters heal with scarring, but it is less severe. Most affected people have malformed fingernails and toenails, and the nails may be lost over time. In the mildest cases, abnormal nails are the only sign of the condition.

Dystrophinopathy

An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed in males but females can be carriers.

EAF

A very rare type of tumor that occurs in the sinus and nasal tracts and upper respiratory system.

Eagle’s syndrome

A group of symptoms caused by calcification of the stylohyoid ligament and an abnormally long styloid process. The styloid process is a bone at the base of the skull which is attached to muscles and ligaments connected to the throat and tongue. If this bone is too long then actions such as swallowing and turning the head can cause pain and discomfort. The cause of the condition is unknown but trauma and inflammation may be the cause in some cases.

Eales disease

A rare eye disorder characterized by sudden vision loss, problems with eye blood vessuls and reoccurring eye blood vessel hemorrhages as well as oozing of clear thick fluid from inside the eyeball. Usually occurs after a stressful situation, trauma or after waking up.

Ear- patella- short stature syndrome

A very rare inherited disorder abnormalities of the inner and outer ear structures, missing kneecap and short stature as well as other physical and developmental abnormalities.

East Texas bleeding disorder

East Texas bleeding disorder a novel bleeding disorder inherited as an autosomal dominant trait in a family from East Texas.

Eastern Equine Encephalitis

In the United States, equine encephalitides for which vaccines are available include eastern equine encephalomyelitis (EEE), western equine encephalomyelitis (WEE), Venezuelan equine encephalomyelitis (VEE) and West Nile Virus encephalomyelitis. Eastern Equine Encephalitis (EEE) is a viral disease of horses that can be transmitted to humans and results in symptoms that are flu like in its symptoms. In humans, EEE is uncommon but is likewise associated with a high rate of morbidity and mortality. Initial symptoms often progress rapidly to confusion, somnolence, or even coma. In North America, the enzootic vector for EEE is the mosquito Culiseta melanura, which is responsible for the spring-summer amplification of the virus in the mosquito-bird-mosquito cycle. Occasionally, other mosquito types (eg, Coquillettidia perturbans and the ubiquitous Aedes canadensis species) may act as bridges in the horse-to-human transmission. The viral reservoir varies depending on climate and habitat changes and often exhibits an annual fluctuation between avirulent and virulent strains. The degree of virulence is related to the host specifics of a given epizootic outbreak. Initial medical care focuses on making a prompt diagnosis that differentiates EEE from potentially treatable causes. Like all diseases caused by alphaviruses, EEE has no specific treatment. Management of this condition primarily rests on supportive and preventive measures.

Ebola

An extremely contagious filovirus causing an acute, usually fatal hemorrhagic fever and spread through contact with bodily fluids of infected persons and by airborne particles.