• Silver-Russell syndrome

    Silver Russel syndrome is a combination of intrauterine incipient dwarfism, facial dysmorphism, and body asymmetry.

  • Silver-Russell syndrome

    Silver Russel syndrome is a combination of intrauterine incipient dwarfism, facial dysmorphism, and body asymmetry.

  • Sickle cell anemia

    Sickle cell anemia is an autosomal recessive condition that belongs to hemolytic anemias or hemoglobinopathies.

  • Short QT syndrome

    Short QT syndrome refers to a condition based on a shortened QT interval on the ECG, which results in a high risk of syncope or sudden cardiac death from malignant ventricular arrhythmias.

  • Very long-chain acyl-CoA dehydrogenase deficiency

    Very long-chain acyl dehydrogenase deficiency is an autosomal recessive inherited disease.

  • Pregnancy-associated osteoporosis

    Pregnancy-associated osteoporosis refers to bone loss during pregnancy or lactation.

  • Schöpf-Schulz-Passarge syndrome

    Schöpf-Schulz-Passage syndrome is a very rare skin disorder.

  • Schinzel-Giedion syndrome

    Schinzel-Giedion syndrome is an autosomal dominant multiple malformation.

  • Thyroid carcinoma

    Thyroid carcinomas are malignant neoplasias of the epithelium of the thyroid gland.

  • Short rib-polydactyly syndrome, Saldino-Noonan type

    Short rib-polydactyly syndrome, Saldino-Noonan type, is a form of congenital osteochondrodysplasia.

  • Saldino-Mainzer syndrome

    Saldino-Mainzer syndrome is an autosomal recessive disorder characterized by renal dysplasia, retinitis pigmentosa, cerebellar ataxia and skeletal dysplasia.

  • Saethre-Chotzen syndrome

    Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniostenosis syndrome.

  • Rothmund-Thomson Syndrome

    The Rothmund-Thomson syndrome describes a genetic skin disease, with a comprehensive poikiloderma on the face and additional orthopedical and ophthalmologic symptoms, as well as a tendency to develop certain cancers.

  • Rosai-Dorfman disease

    The Rosai-Dorfman disease belongs to the group of histiocytoses and is characterized by a proliferation of histiocytes, which accumulate in the lymph nodes.

  • Rombo syndrome

    Rombo syndrome describes a very rare, facialized genodermatosis of unknown origin.

  • Robinow syndrome

    Robinow syndrome is a rare genetic disease characterized by shortened limbs and malformations of the face and outer genitalia.

  • Giant cell arteritis

    Giant cell arteritis is the most common systemic vasculitis in patients over the age of 50 years. It affects cranial vessels, the aorta and extracranial vessels (e.g. extremity arteries).

  • rickettsialpox

    Rickettsialpox is an acute fever disease resulting from a sting of the laelapid mite Allodermanyssus sanguineus.

  • Reese retinal dysplasia

    Reese retinal dysplasia is a congenital dysplasia of the retina in the presence of a primary vitreous body.

  • Renpenning syndrome

    Renpenning Syndrome is an x-linked disorder that describes the symptom complex of mental retardation, microcephaly, leanness and mild dwarfism.

  • 1 |
  • 2 |
  • 3 |
  • 4 |
  • 5 |
  • 6 |
  • 7 |
  • 8 |
  • 9 |
  • 10 |
  • 11 |