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.
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.