Diseases

Acrofacial dysostosis Palagonia type

One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.

Acrofacial dysostosis Preis type

One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.

Acrofacial dysostosis Rodriguez type

One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.

Acrofrontofacionasal dysostosis syndrome

A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.

Acrogeria- gottron type

Acrogeria, Gottron type is a premature aging syndrome. Characteristic signs include fragile, thin skin on the hands and feet. Other parts of the body (e.g., face, forearms, and lower legs) are variably affected. It is generally considered to be a mild, nonprogressive, congenital form of skin atrophy due to the loss of the fatty tissue directly under the skin. Other symptoms reported in individual cases include small hands and feet, prominent veins on the chest, small stature, small jaw, premature senility, premature hair greying, endocrine disturbances, and cataracts. Currently the cause of this condition is unknown.

It is believed that Gottron syndrome may affect more females than males. Approximately forty cases have been reported in the medical literature, since the discovery of the disorder.

Acrokeratoelastoidosis of Costa

Acrokeratoelastoidosis is a rare genodermatosis characterized by small, firm papules or plaques on the sides of the hands and feet. These nodules may result from an abnormality in the secretion or excretion of elastic material by fibroblasts in the dermis. Acrokeratoelastoidosis was first described in 1953 by Costa.

Acromegaly

Acromegaly is an extremely rare syndrome that results when the anterior pituitary gland produces excess growth hormone (GH) after epiphyseal plate closure at puberty. If GH is produced in excess prior to epiphyseal plate closure, the result is gigantism (or giantism). A number of disorders may increase the pituitary's GH output, although most commonly it involves a tumor called pituitary adenoma, derived from a distinct type of cell (somatotrophs).

Acromegaly most commonly affects adults in middle age, and can result in severe disfigurement and fatal complications if unchecked. Because of its pathogenesis and slow progression, it is hard to diagnose in the early stages and is frequently missed for years until changes in external features, especially of the face, become noticeable.

Acromelic frontonasal dysplasia

Acromelic frontonasal dysplasia is a very rare genetic malformation syndrome characterized by developmental abnormalities of the face and brain

Acromesomelic dysplasia

Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait.

There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. 

  • Acromesomelic dysplasia, Maroteaux type
  • Acromesomelic dysplasia, Hunter-Thompson type
  • Acromesomelic dysplasia, Grebe type
  • Acromesomelic dysplasia, Osebold-Remondini typ
  • Acromesomelic dysplasia with genital anomalies
  • Fibular hypoplasia and complex brachydactyly (Du Pan syndrome)

Acromesomelic dysplasia Hunter Thompson type

Acromesomelic dysplasia Hunter Thompson type is a rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones. These abnormalities are restricted to the limbs, the craniofacial skeleton and axial skeletal structure.

Acromesomelic dysplasia Maroteaux type

Acromesomelic dysplasia, Maroteaux type is a rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.

In most of infant birth length and weight is normal but skeletal growth falls and at the age of 1-2 years of age, diagnostic skeletal changes are present and consist of short and misshapen bones of the limbs and spine, and abnormal growth plates.

Acromicric dysplasia

Acromicric dysplasia is a rare type of skeletal dysplasia characterized by abnormal bone growth. Signs and symptoms include short stature, short hands and feet, mildly distinctive facial features, characteristic X-ray abnormalities of the hands, and other features that occasionally occur. Intelligence is normal. It has recently been found to be caused by mutations in the FBN1 gene and is inherited in an autosomal dominant manner. The prognosis for affected individuals is good; no major complications appear to occur in affected individuals and life expectancy is normal.

Acroosteolysis dominant type

Acroosteolysis dominant type is a rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.

Acropectoral syndrome

Acropectoral syndrome is a rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall.

Acropectorovertebral dysplasia

Acropectorovertebral dysplasia is a rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones.

Acrorenal mandibular syndrome

Acrorenal mandibular syndrome is a very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.

Acrorenal syndrome recessive

Acrorenal syndrome recessive is a rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities.

Acrospiroma

Acrospiroma is a cutaneous condition (tumor), primarily occurring in adult women that develops in the ends of sweat glands in the skin. They are usually benign.

ACTH resistance

ACTH resistance is a rare inherited genetic disorder characterized by adrenal insufficiency due to the adrenal gland's inability to respond to ACTH (adrenocorticotropic hormone) and hence produce the hormone called cortisol.

ACTH-independent macronodular adrenal hyperplasia

Adrenocorticotropin independent macronodular adrenocortical hyperplasia (AIMAH) is considered a rare form of macronodular adrenal hyperplasia. It is an uncommon cause of primary adrenal hypercortisolism. In the literature that it is also mention a highly rare cause of Cushing syndrome. 

The prevalance of Cushing is estimated at 1/26,000 and ACTH is estimated to represent less than 1% of those cases. 

Actinic cheilitis

Actinic cheilitis is abbreviated to AC and it is also termed as actinic cheilosis, actinic keratosis of lip, solar cheilosis, sailor's lip, farmer's lip, cheilitis (lip inflammation). It is caused by long term sunlight exposure. Essentially it is a burn and a variant of actinic keratosis, which occurs on the lip. It is a premalignant condition, as it can develop into squamous cell carcinoma (a type of mouth cancer).

Actinomycetales infection

Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. This order contains several different groups of bacteria that are shaped like thin filaments or rods, including the Mycobacteria that are best known as the cause of tuberculosis. Bacteria from all of these groups cause a wide variety of diseases.

It is an infectious disease that can occur throughout the body. Actinomycosis is most commonly due to the species Actinomyces israelii, which causes infections that typically affect the face and neck but can involve other areas of the body as well.These bacteria normally reside in the nose, mouth and throat, where they do not cause problems. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious. Disease may occur if they enter the skin or body as a result of injury or surgery, through a tooth abscess, by aspiration, if another infection is present, or if an intrauterine device (IUD) is present.

Activated Phosphoinositide 3-kinase δ syndrome

Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare, inherited condition that affects the way the immune system works. The most common symptoms of APDS are frequent upper respiratory tract infections, sinus infections, ear infections, bronchitis and pneumonia (lung infection).

Acute Antibody-mediated Rejection

Acute antibody-mediated rejection is a severe and potentially life-threatening condition that can lead to severe allograft damage resulting in rapid loss of function and possible loss of the transplanted organ. Patients who are sensitized (have high levels of donor-specific-antibodies [DSAs]) are at high risk for developing acute AMR, may have difficulty finding a donor to who they are not sensitized, and therefore may never have the opportunity to have a life-saving transplant. 

Acute articular rheumatism

Acute articular rheumatism is most common in adults and involves symptoms such as fever and arthritis. Acute rheumatic fever (ARF) is a complication of a strep throat caused by particular strains of GAS. Although common in developing countries, ARF is rare in the United States, with small isolated outbreaks reported only occasionally. It is most common among children between 5-15 years of age. A family history of ARF may predispose an individual to the disease. Symptoms typically occur 18 days after an untreated strep throat. An acute attack lasts approximately 3 months.