Disease Index

developmental defect during embryogenesis

human disease

osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis

human disease

human disease

human disease

human disease

medical condition

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings

human disease

human disease

human disease

spondyloepimetaphyseal dysplasia that has material basis in mutations in the MMP13 gene which results in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities

spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence

spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has material basis in autosomal recessive inheritance

Human disease

rare human disease

Human disease

spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has material basis in mutation in the SEDL gene on chromosome Xp22

Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit

spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints

human disease

Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy

Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness

human disease

Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit