Gamuts

Spondyloepiphyseal dysplasia

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). [Source: Wikipedia ]

Subtypes
Late-onset spondyloepiphyseal dysplasia autosomal recessive type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia Kimberley type
Spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia with metatarsal shortening
May Cause
Absent clavicle
Accessory epiphyses
Anisospondyly
Atlantoaxial instability
Clavicle hypoplasia
Congenital coxa vara
Congenital vertebral abnormality
Craniosynostosis
Femoral head dysplasia
Flat femoral head
Fragmented femoral head
Fragmented or irregular femoral head
Generalized small epiphyses
Irregular epiphyseal ossification centers
Kyphoscoliosis
Late-onset dwarfism
Malformed patella
Microcephaly
Multiple abnormal epiphyses
Platyspondyly
Premature osteoarthritis
Pseudoepiphyses
Retarded skeletal maturation
Small or dysplastic carpal and/or tarsal bones
Stippled epiphyses
Thin clavicle
Tibiotalar tilt
May Be Caused by
Mild spondyloepiphyseal dysplasia with premature onset arthrosis
Roifman syndrome

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