Subcorneal pustular dermatosis is a chronic, benign disease characterized by sterile, pustular eruptions.
Stüve-Wiedermann syndrome is a congenital autosomal recessive skeletal dysplasia.
Urea Cycle Disorders (UCD) are inherited metabolic diseases of the liver.
Steatocystoma multiplex refers to a dermatological disease in which there are asymptomatic, sebum-filled skin cysts, especially in the upper thorax (sternum, upper back, axilla).
Spondylometaphyseal dysplasia type Koslowski is the most common form of spondylometaphyseal dysplasia manifesting mainly in vertebral bodies and metaphyses.
Spondylometaphyseal dysplasia is a disorder of vertebral body development that manifests in the second year of life with gait and growth disorders.
Spondylocostal dysostosis is a heritable disease, which is characterized by segmentation disorders of the spine and ribs.
Spondylocarpotarsal synostosis is a rare disease involving a fusion of the vertebral bodies (often in the form of an unsegmented rod) and merging of the metatarsal and metatarsal bones.
Spondyloepiphyseal dysplasia tarda is a chondroplasia due to a mutation in the SEDL gene (TRAPPC2).
Spudyloepimetaphyseal dysplasia type Strudwick is the most common spondyloepimetaphyseal dysplasia (SEMD).
Spondyloepimetaphyseal dysplasia (SEMD) involves a group of chondrodysplasias with changes in the vertebral body and the metaphyses and epiphyses of the long bones.
Spinal muscular atrophy (SMA) is a group of autosomal recessive, proximal disorders that are classified into different types. These are characterized by progressive muscle weakness as a result of degeneration or loss of lower motor neurons in the spinal cord (anterior horn cells) and in the nuclei of the brainstem.
Spina bifida aperta is a congenital malformation of the spine due to an abnormal development of the vertebral body.
Snyder-Robinson syndrome is an x-linked recessive disorder.
The SGBS is characterized by pre- and postnatal adult growth, facial dysmorphism and multiple skeletal and visceral abnormalities.
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.