Acroosteolysis dominant type is a rare connective tissue disease and belongs to a group of several osteolytic diseases.
Bowen-Conradi syndrome is a fatal hereditary disorder of ribosome biogenesis.
Borjeson-Forssman-Lehman syndrome is an X-linked recessive disorder with characteristic symptoms such as mental retardation, torsal obesity, hypogonadism, and specific facial features.
Cutis marmorata teleangiectatica congenital is a vascular anomaly that leads to various dermatological symptoms.
The systemic capillary leak syndrome describes a rare systemic disease caused by increased capillary permeability.
CACH syndrome (childhood ataxia with central nervous system hypomyelination) is a leukoencephalopathy that manifests in childhood.
Bernard-Soullier syndrome is a rare bleeding disorder underlying a deficiency of the von Willebrand factor receptor.
Apolipoprotein A-I deficiency is a metabolic disorder related to the lipoprotein and characterized by the holistic absence of the apolipoprotein.
Adenosine monophosphate deaminase deficiency is a metabolic disease of the muscles.
Aicardi-Goutières syndrome is a hereditary encephalopathy, characterized by an association with leukodystrophy, calcified basal ganglia and lymphocystosis of the cerebrospinal fluid.
Adrenocortical carcinoma is a rare malignant tumor located in the outermost layer of the adrenal glands. It can be either endocrine active or inactive.
Classic hair cell leukemia is a rare form of leukemia. It is based on abnormal B lymphocytes in the spleen, bone marrow and peripheral blood. The name refers to the abnormal form of lymphocytes having hair-like extensions.
Gastrointestinal stromal tumor is a rare mesenchymal tumor in the gastrointestinal tract. The GISTs account for only about 1-3% of all malignancies of the gastrointestinal tract.
Isolated ectopia lentis is a clinically very variable eye disease characterized by lens dislocation. So far, 90 cases have been described.
Acromicric dysplasia refers to a rare bone dysplasia with less than 60 cases described so far. Typical symptoms include dwarfism, facial dysmorphism and short limbs, hands and feet.
Autosomal recessive dopa-responsive dystonia is a rare neurometabolic disorder characterized by a broad spectrum of symptoms ranging from dystonia to infantile encephalopathy.
D-2-hydroxyglutaric aciduria is a form of 2-hydroxyglutaric aciduria, but is much rarer and is distinguished by the high concentration of D-2-hydroxyglutaric acid in plasma, urine and cerebrospinal fluid.
The autosomal dominant cutis laxa manifests with the typical symptoms of connective tissue including excessive, wrinkled skin and an additional involvement of the internal organs.
Congenital analbuminemia refers to the absence or severe reduction of circulating serum albumin.
The arterial tortuosity syndrome refers to a rare disease of the connective tissue, which in name leads to tortuous and elongated arteries.