Silver Russel syndrome is a combination of intrauterine incipient dwarfism, facial dysmorphism, and body asymmetry.
Silver Russel syndrome is a combination of intrauterine incipient dwarfism, facial dysmorphism, and body asymmetry.
Sickle cell anemia is an autosomal recessive condition that belongs to hemolytic anemias or hemoglobinopathies.
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 dehydrogenase deficiency is an autosomal recessive inherited disease.
Pregnancy-associated osteoporosis refers to bone loss during pregnancy or lactation.
Schöpf-Schulz-Passage syndrome is a very rare skin disorder.
Schinzel-Giedion syndrome is an autosomal dominant multiple malformation.
Thyroid carcinomas are malignant neoplasias of the epithelium of the thyroid gland.
Short rib-polydactyly syndrome, Saldino-Noonan type, is a form of congenital osteochondrodysplasia.
Saldino-Mainzer syndrome is an autosomal recessive disorder characterized by renal dysplasia, retinitis pigmentosa, cerebellar ataxia and skeletal dysplasia.
Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniostenosis 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.
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 describes a very rare, facialized genodermatosis of unknown origin.
Robinow syndrome is a rare genetic disease characterized by shortened limbs and malformations of the face and outer genitalia.
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 is an acute fever disease resulting from a sting of the laelapid mite Allodermanyssus sanguineus.
Reese retinal dysplasia is a congenital dysplasia of the retina in the presence of a primary vitreous body.
Renpenning Syndrome is an x-linked disorder that describes the symptom complex of mental retardation, microcephaly, leanness and mild dwarfism.