spondyloepiphyseal dysplasia congenita , SED (Abkürzung)

Actor Warwick Davis's dwarfism has been attributed to spondyloepiphyseal dysplasia congenita.

The signs and symptoms of this condition at birth are very similar to those of spondyloepiphyseal dysplasia congenita, a related skeletal disorder.

Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related disorder on the spectrum of abnormal bone growth.

Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.

Spondyloepiphyseal dysplasia congenita is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.

The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis.

Francisco and Evelyn were born with a genetic disease that affects four in every one million people, spondyloepiphyseal dysplasia congenita, or SEDC.

Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene.

Unlike most dwarfs (70%) who have a condition called achondroplasia, Davis' dwarfism is caused by an extremely rare genetic condition called spondyloepiphyseal dysplasia congenita (SED).

Other causes of dwarfism are spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, Noonan syndrome, primordial dwarfism, Turner syndrome, osteogenesis imperfecta (OI) and hypothyroidism.

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.