Gamuts

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). [Source: Wikipedia ]

Synonyms
Spondyloepiphyseal dysplasia congenital
OrphaNet reference
Spondyloepiphyseal dysplasia congenita 
Is A
Spondyloepiphyseal dysplasia
May Cause
Abnormal odontoid process
Anterior beaked vertebrae in a child
Arthropathy
Atlantoaxial instability
Cleft lip/palate
Congenital atlantoaxial subluxation or instability
Congenitally abnormal pelvis
Coxa vara
Decreased muscle mass
Defective pubic ossification
Delayed ossification of the pubic bone
Dense epiphyses of hands and feet
Fragmented, irregular, or sclerotic carpal or tarsal bones
Genu valgum
Genu varum
Hypertelorism
Hypoplastic pelvis
Joint subluxation
Lethal skeletal dysplasia
Macrocephaly
Myopia
Odontoid aplasia
Odontoid hypoplasia
Pectus carinatum
Platyspondyly
Pubic bone nonossification
Retinal detachment
Retinopathy
Round vertebrae
Short narrow thoracic cage
Short ribs
Skull base hypoplasia
Small acetabular angle
Symmetrical anterior rib flaring
Thoracic dysplasia
Type A pelvis
Wide metaphysis

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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