• Stüve-Wiedemann syndrome

    Stüve-Wiedermann syndrome is a congenital autosomal recessive skeletal dysplasia.

  • Disruption of the urea cycle

    Urea Cycle Disorders (UCD) are inherited metabolic diseases of the liver.

  • Steatocystoma multiplex

    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

    Spondylometaphyseal dysplasia type Koslowski is the most common form of spondylometaphyseal dysplasia manifesting mainly in vertebral bodies and metaphyses.

  • Spondylometaphyseal dysplasia

    Spondylometaphyseal dysplasia is a disorder of vertebral body development that manifests in the second year of life with gait and growth disorders.

  • Spondylocostal dysostosis

    Spondylocostal dysostosis is a heritable disease, which is characterized by segmentation disorders of the spine and ribs.

  • Spondylocarpotarsal synostosis

    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

    Spondyloepiphyseal dysplasia tarda is a chondroplasia due to a mutation in the SEDL gene (TRAPPC2).

  • Spondyloepimetaphyseal dysplasia type Strudwick

    Spudyloepimetaphyseal dysplasia type Strudwick is the most common spondyloepimetaphyseal dysplasia (SEMD).

  • Spondyloepimetaphyseal dysplasia

    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

    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

    Spina bifida aperta is a congenital malformation of the spine due to an abnormal development of the vertebral body.

  • Snyder-Robinson syndrome

    Snyder-Robinson syndrome is an x-linked recessive disorder.

  • Simpson-Golabi-Behmel syndrome

    The SGBS is characterized by pre- and postnatal adult growth, facial dysmorphism and multiple skeletal and visceral abnormalities.

  • 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.

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