• 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.

  • 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.

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