Diseases

Dennis Fairhurst Moore syndrome

A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair.

Dens in dente and palatal invaginations

An inherited tooth anomaly where the back of the front teeth are abnormally grooved which increases the risk of tooth decay. Dens in dente is also present which is a developmental tooth abnormality where there appears to be a small tooth at the back of the base of a front tooth. Generally this condition occurs in the top lateral incisors.

Dent disease 1

A rare kidney disease inherited in a X-linked manner. It involves kidney tubule damage which results in progressive kidney dysfunction. There are two types of Dent disease and they differ in the origin of the genetic defect.

Dentatorubral pallidoluysian atrophy

A rare neurodegenerative disease. Adult patients suffer symptoms such as ataxia, choreoathetosis myoclonus, epilepsy and dementia and children suffer ataxia, myoclonus, epilepsy and mental retardation. The condition is also known as Haw River syndrome or Natito-Oyanagi disease.

Dentin dysplasia- coronal

A rare inherited disorder characterized by opalescent primary teeth and abnormal secondary teeth which appear normal.

Dentin dysplasia- type 1

A rare inherited disorder characterized by abnormal dentin formation which results in abnormal tooth roots and pulp chambers.

Dentinogenesis imperfecta

Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.

Dercum’s Disease

Dercum’s disease is a rare disorder characterized by multiple, painful growths of fatty tissue (lipomas). Fat tissue is known as loose connective tissue, hence Dercum’s disease is a loose connective tissue disease. The lipomas mainly occur on the trunk, the upper arms and upper legs and are found just below the skin (subcutaneously) but also can be found deeper in the body coupled to muscle, tendons, ligaments or bone by connective tissue. Pain associated with Dercum’s disease can often be severe. Pain may be caused by lipomas pressing on nearby nerves or inflamed connective tissue, also called fascia, which is commonly associated with the lipomas. Dercum’s disease mainly occurs in adults and more women are affected than men. Some affected individuals may also experience weight gain, depression, lethargy, and/or confusion. The exact cause of Dercum’s disease is unknown.

Dermatomyositis

Dermatomyositis is a rare autoimmune disease that causes inflammation, leading to a characteristic skin rash and progressive muscle weakness. Symptoms can include a distinctive reddish-purple rash, especially on the eyelids and joints, and symmetric weakness of the proximal muscles. While treatments like corticosteroids and physical therapy can manage symptoms, there is currently no cure for the condition. It can also affect other organs like the lungs and is associated with a higher risk of underlying malignancy.

Dermochondrocorneal dystrophy of François

A rare condition characterized by osteochonral deformity (abnormal bone and cartilage development) of the hands and feet, dystrophy of the corneas and skin nodules on certain parts of the body.

Dermoodontodysplasia

A very rare syndrome characterized mainly by tooth, skin, hair and nail abnormalities.

Desbuquois syndrome

A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.

Desminopathy

Desminopathy is one of the most common intermediate filament human disorders associated with mutations in closely interacting proteins, desmin and alphaB-crystallin. The inheritance pattern in familial desminopathy is characterized as autosomal dominant or autosomal recessive, but many cases have no family history. At least some and likely most sporadic desminopathy cases are associated with de novo DES mutations.

Desmoid disease- hereditary

A rare inherited disorder characterized by the development of benign growths called desmoid tumors or fibromatoses. The growth usually occurs in the abdomen but can occur in the neck, chest, arms and legs. Symptoms vary depending on the size and location of the growths. Even thought the growths are benign the can cause localized damage and obstruction. The condition can stabilize or become progressively worse and ultimately lead to death. The tumors often develop after some sort of trauma such as abdominal surgery or childbirth .

Desmoplastic small round cell tumor

Desmoplastic small-round-cell tumor (DSRCT) is an aggressive and rare cancer that primarily occurs as masses in the abdomen. Other areas affected may include thelymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles, ovaries, and the pelvis. Reported sites of metatastic spread include the liver, lungs, lymph nodes, brain, skull, and bones.

The tumor is classified as a soft tissue sarcoma. It is considered a childhood cancer that predominantly strikes boys and young adults. The disease rarely occurs in females, but when it does the tumors can be mistaken for ovarian cancer.

Developmental and Epileptic Encephalopathies

The term “developmental and epileptic encephalopathy” (DEE) refers to when cognitive functions are influenced by both seizure and interictal epileptiform activity and the neurobiological process behind the epilepsy. Many DEEs are related to gene variants and the onset is typically during early childhood.

DFNB49 nonsyndromic deafness

DFNB49 non-syndromic deafness also known as dfnb 49 nonsyndromic hearing loss and deafness, is an inherited condition caused by mutations in the gene TRIC. Its "non-syndromic" designation means the hearing loss has not previously been linked to any other medical conditions.

Di Guglielmo’s syndrome

First described in 1923 and named after Giovanni Guglielmo. It is classified as an M6 subtype of acute myelogenous leukemia (AML). It is characterised by large numbers of nucleated red cells appearing in the bone marrow and circulating blood volume.

Diabetes insipidus- diabetes mellitus- optic atrophy

Wolfram syndrome is the inherited association of childhood-onset diabetes mellitus and progressive-onset optic atrophy. All people affected by Wolfram syndrome have juvenile-onset diabetes mellitus and degeneration of the optic nerve (optic atrophy).

Diabetes insipidus- nephrogenic type 2

Diabetes insipidus, nephrogenic type 2: A rare congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. Type II is specifically caused by a defect in the AQP2 gene on chromosome 12q13.

Diabetes insipidus- nephrogenic type 3

Nephrogenic diabetes insipidus is a disorder in which a defect in the small tubes (tubules) in the kidneys causes a person to pass a large amount of urine. The tubules allow water to be removed from the body or reabsorbed.

Diabetes insipidus- nephrogenic with mental retardation and intracerebral calcification

Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification (medical condition): A rare syndrome characterized mainly by brain calcification, mental retardation, short stature, diabetes insipidus and unusual facial appearanc+B169 e. Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification: Another name for Schofer beetz bohl syndrome (or close medical condition association).