Spondyloepiphyseal dysplasia congenita

Jump to: navigation, search
Spondyloepiphyseal dysplasia congenita
ICD-10 Q77.7
ICD-9 756.9
OMIM 183900
DiseasesDB 29410

WikiDoc Resources for Spondyloepiphyseal dysplasia congenita

Articles

Most recent articles on Spondyloepiphyseal dysplasia congenita

Most cited articles on Spondyloepiphyseal dysplasia congenita

Review articles on Spondyloepiphyseal dysplasia congenita

Articles on Spondyloepiphyseal dysplasia congenita in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Spondyloepiphyseal dysplasia congenita

Images of Spondyloepiphyseal dysplasia congenita

Photos of Spondyloepiphyseal dysplasia congenita

Podcasts & MP3s on Spondyloepiphyseal dysplasia congenita

Videos on Spondyloepiphyseal dysplasia congenita

Evidence Based Medicine

Cochrane Collaboration on Spondyloepiphyseal dysplasia congenita

Bandolier on Spondyloepiphyseal dysplasia congenita

TRIP on Spondyloepiphyseal dysplasia congenita

Clinical Trials

Ongoing Trials on Spondyloepiphyseal dysplasia congenita at Clinical Trials.gov

Trial results on Spondyloepiphyseal dysplasia congenita

Clinical Trials on Spondyloepiphyseal dysplasia congenita at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Spondyloepiphyseal dysplasia congenita

NICE Guidance on Spondyloepiphyseal dysplasia congenita

NHS PRODIGY Guidance

FDA on Spondyloepiphyseal dysplasia congenita

CDC on Spondyloepiphyseal dysplasia congenita

Books

Books on Spondyloepiphyseal dysplasia congenita

News

Spondyloepiphyseal dysplasia congenita in the news

Be alerted to news on Spondyloepiphyseal dysplasia congenita

News trends on Spondyloepiphyseal dysplasia congenita

Commentary

Blogs on Spondyloepiphyseal dysplasia congenita

Definitions

Definitions of Spondyloepiphyseal dysplasia congenita

Patient Resources / Community

Patient resources on Spondyloepiphyseal dysplasia congenita

Discussion groups on Spondyloepiphyseal dysplasia congenita

Patient Handouts on Spondyloepiphyseal dysplasia congenita

Directions to Hospitals Treating Spondyloepiphyseal dysplasia congenita

Risk calculators and risk factors for Spondyloepiphyseal dysplasia congenita

Healthcare Provider Resources

Symptoms of Spondyloepiphyseal dysplasia congenita

Causes & Risk Factors for Spondyloepiphyseal dysplasia congenita

Diagnostic studies for Spondyloepiphyseal dysplasia congenita

Treatment of Spondyloepiphyseal dysplasia congenita

Continuing Medical Education (CME)

CME Programs on Spondyloepiphyseal dysplasia congenita

International

Spondyloepiphyseal dysplasia congenita en Espanol

Spondyloepiphyseal dysplasia congenita en Francais

Business

Spondyloepiphyseal dysplasia congenita in the Marketplace

Patents on Spondyloepiphyseal dysplasia congenita

Experimental / Informatics

List of terms related to Spondyloepiphyseal dysplasia congenita

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

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. Adult height ranges from 0.9 metres to just over 1.4 metres. Curvature of the spine (kyphoscoliosis and lordosis) progresses during childhood and can cause problems with breathing. Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and an inward- and downward-turning foot (called clubfoot). Decreased joint mobility and arthritis often develop early in life.

Medical texts often state a mild and variable change to facial features, although this appears to be unfounded. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. Severe nearsightedness (high myopia) is sometimes present, as are other eye problems that can affect vision such as detached retinas. About one-quarter of people with this condition have hearing loss.

Causes

Spondyloepiphyseal dysplasia congenita is inherited in an autosomal dominant pattern.

Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.

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

Diagnosis

Notable cases

Actor Warwick Davis's dwarfism has been attributed to spondyloepiphyseal dysplasia congenita. The condition of late actor Michael Dunn has been attributed to spondyloepiphyseal dysplasia, type unspecified.

References

External links




Linked-in.jpg