Dysosteosclerosis: A rare inherited condition characterized by bone development abnormalities (excessive hardening of bone and flattened vertebrae), characteristic facial features. Excessive bone growth at the base of the skull can damage the optic nerves and affect vision.
Dysostosis: Defective bone development. It can result in missing bones, extra bone, shortened bones or other bone abnormalities. Further symptoms depend on the type of abnormality.
Dysostosis acral with facial and genital abnormalities: A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Robinow syndrome tends to be milder than the recessive form.
Dysostosis peripheral: A rare condition characterized by malformed bones in the hands and feet. The severity of the malformation is variable.
Dysostosis stanescu type (medical condition): A rare disorder involving abnormal bone and cartilage development.
An inherited form of dementia caused by nerve degeneration.
A speech disorder which sounds like stuttering and is caused by abnormal vocal cord movement.
A condition characterized by overgrowth of the epiphyseal cartilage on one of the hand or foot bones and occasionally on other bones.
A very rare syndrome characterized mainly by abnormal bone and brain development.
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.
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
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.
A lethal syndrome characterized primarily by severe skeletal abnormalities.
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.
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.
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.
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
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.
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.
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.
A disorder characterized by dystonia of the lower limbs which becomes worse towards nighttime. The condition usually starts during childhood.
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.
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.
A very rare type of tumor that occurs in the sinus and nasal tracts and upper respiratory system.
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.
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.
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.
A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes.