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Spondyloepiphyseal Dysplasia Congenita (SEDC)

Name of disease:

Spondyloepiphyseal Dysplasia Congenita (SEDC)

ICD-10 diagnosis code:

Q77.7

Causes:

Spondyloepiphyseal Dysplasia Congenita (SEDC) is one of the skeletal disorders caused by mutations in the type II collagen (COL2A1) gene.

Mode of inheritance:

Most cases are sporadic. Rarely autosomal dominant.

Prevalence:

1/100,000

Diagnosis:

A complete medical history Physical examination Different diagnostic tests, e.g.: X-rays Magnetic resonance imaging (MRI) Genetic testing Hip arthrography EOS imaging (an imaging technology that creates 3-dimensional models from two planar images) Vision and hearing tests Pulmonary function tests

Age of onset:

New born babies

Common signs and symptoms:

Short stature from birth with a very short trunk, neck and shortened limbs but hands and feet are usually average-sized Adult height ranges from 3 feet to just over 4 feet Abnormal curvature of the spine (kyphoscoliosis / lordosis) Other skeletal features include flattened vertebrae, coxa vara, clubfoot, a broad, barrel-shaped chest, etc. Flat face Cleft palate Severe nearsightedness Hearing deficits or deafness

Available treatments (medicinal and non-medicinal):

Currently, there is no specific treatment for SEDC. Only the medical issues caused by the condition can be addressed. As the condition affects several body systems at the same time, a team of expert clinicians — including leading orthopaedic surgeons and physicians, neurologist, pulmonologist, ophthalmologist, otolaryngologist, etc. will be needed.

Disease management tips:

For child patients, continued monitoring is required to help spot any irregularities in growth or development and to address health issues as they develop. Activities that can cause trauma to the head or neck such as contact sports should be avoided as SEDC patients have unstable necks. A psychologist or social worker may be needed to address any body-image and related mental health issues.

References:

https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-congenita https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068 https://www.hopkinsmedicine.org/health/conditions-and-diseases/spondyloepiphyseal-dysplasia-congenita https://www.chop.edu/conditions-diseases/spondyloepiphyseal-dysplasia-congenita http://web.tfrd.org.tw/genehelp/article.html?articleID=Spondyloepiphyseal%2520Dysplasia%2520Congenita%2520%28SEDC%29&submenuIndex=0

Other useful websites:

More about the disease:https://www.printfriendly.com/p/g/eWRcez Patient groups:https://www.lphk.org/about.html (Little People of Hong Kong)http://www.slixsociety.org.hk/shou-zu-tong-le/home (Hong Kong Slix Society)