Spondyloepimetaphyseal Dysplasia

	Spondyloepimetaphyseal Dysplasia Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. Types include: * Spondyloepimetaphyseal dysplasia, Strudwick type * Spondyloepiphyseal dysplasia congenita * Spondyloepimetaphyseal dysplasia, Pakistani type Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving ''PAPSS2'' (also known as "ATPSK2"). The condition is rare. Signs and symptoms This condition is a skeletal dysplasia characterized by shor ... References External links Congenital disorders {{musculoskeletal-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Spondyloepiphyseal Dysplasia Congenita Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI. Presentation People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. This type of dwarfism is characterized by a normal spinal column length relative to the femur bone. Adult height ranges from 0.9 m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Spondyloepimetaphyseal Dysplasia, Pakistani Type Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving ''PAPSS2'' (also known as "ATPSK2"). The condition is rare. Signs and symptoms This condition is a skeletal dysplasia characterized by short stature, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, platyspondyly, delayed epiphyseal ossification, mild metaphyseal abnormalities, short stature and short and bowed legs. Intelligence is normal. Some patients may manifest premature pubarche and hyperandrogenism. Other features that may form part of the syndrome include precocious costal calcification, small iliac bones, short femoral necks, coxa vara, short halluces and fused vertebral bodies. Genetics This condition is inherited in an autosomal recessive fashion. It is due to mutations in the Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (''PAPSS2 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]