• Acroosteolysis dominant type

    Acroosteolysis dominant type is a rare connective tissue disease and belongs to a group of several osteolytic diseases.

  • Bowen-Conradi syndrome

    Bowen-Conradi syndrome is a fatal hereditary disorder of ribosome biogenesis.

  • Borjeson-Forssman-Lehmann syndrome

    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 congenita

    Cutis marmorata teleangiectatica congenital is a vascular anomaly that leads to various dermatological symptoms.

  • Systemic capillary leak syndrome

    The systemic capillary leak syndrome describes a rare systemic disease caused by increased capillary permeability.

  • CACH syndrome

    CACH syndrome (childhood ataxia with central nervous system hypomyelination) is a leukoencephalopathy that manifests in childhood.

  • Bernard-Soulier syndrome

    Bernard-Soullier syndrome is a rare bleeding disorder underlying a deficiency of the von Willebrand factor receptor.

  • Apolipoprotein A-I deficiency

    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

    Adenosine monophosphate deaminase deficiency is a metabolic disease of the muscles.

  • Aicardi-Goutières syndrome

    Aicardi-Goutières syndrome is a hereditary encephalopathy, characterized by an association with leukodystrophy, calcified basal ganglia and lymphocystosis of the cerebrospinal fluid.

  • Adrenocortical carcinoma

    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 hairy cell leukemia

    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

    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

    Isolated ectopia lentis is a clinically very variable eye disease characterized by lens dislocation. So far, 90 cases have been described.

  • Acromicric dysplasia

    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

    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

    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.

  • Autosomal dominant cutis laxa

    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

    Congenital analbuminemia refers to the absence or severe reduction of circulating serum albumin.

  • Arterial tortuosity syndrome

    The arterial tortuosity syndrome refers to a rare disease of the connective tissue, which in name leads to tortuous and elongated arteries.

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