National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Spondyloepiphyseal dysplasia congenita


Other Names:
SEDC; SED congenita; Spondyloepiphyseal dysplasia, congenital type
Categories:
Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the hip joint; and problems with vision and hearing. Arthritis and decreased joint mobility often develop early in life. More than 175 cases have been reported in the scientific literature. This condition is caused by mutations in the COL2A1 gene and is inherited in an autosomal dominant pattern. Most cases result from new mutations in the gene and occur in people with no family history of the condition.[1]
Last updated: 1/11/2012

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Micromelia
Smaller or shorter than typical limbs
0002983
Narrow chest
Low chest circumference
Narrow shoulders
[ more ] 		0000774
Platyspondyly
Flattened vertebrae
0000926
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Short thorax
Shorter than typical length between neck and abdomen
0010306
Skeletal dysplasia 0002652
30%-79% of people have these symptoms
Broad forehead
Increased width of the forehead
Wide forehead
[ more ] 		0000337
Cleft palate
Cleft roof of mouth
0000175
Coxa vara 0002812
Flat face
Flat facial shape
0012368
Hyperlordosis
Prominent swayback
0003307
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] 		0001376
Osteoarthritis
Degenerative joint disease
0002758
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
5%-29% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Glaucoma 0000501
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Retinal detachment
Detached retina
0000541
Scoliosis 0002650
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Barrel-shaped chest
Barrel chest
0001552
Cervical myelopathy 0002318
Delayed calcaneal ossification 0008142
Delayed pubic bone ossification 0008788
Flattened epiphysis
Flat end part of bone
0003071
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ] 		0002827
Hypoplasia of the odontoid process 0003311
Limitation of knee mobility
Limited knee movement
0010501
Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ] 		0002996
Limited hip movement 0008800
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Malar flattening
Zygomatic flattening
0000272
Muscular hypotonia
Low or weak muscle tone
0001252
Neonatal short-trunk short stature 0008857
Ovoid vertebral bodies 0003300
Pectus carinatum
Pigeon chest
0000768
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Spondyloepiphyseal dysplasia 0002655
Vitreoretinopathy 0007773
Waddling gait
'Waddling' gait
Waddling walk
[ more ] 		0002515
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Last updated: 7/1/2020
Spondyloepiphyseal dysplasia (SEDC) is typically inherited in an autosomal dominant manner. This means that one altered (mutated) gene in each cell is sufficient to cause the disorder. Most cases of SEDC do not result from inheriting it from a parent, however; the condition more commonly results from a random, new mutation in the gene occurring for the first time in an affected individual who does not have a history SEDC in the family.[2] In most of these cases, the risk to have another child with the condition is comparable to the risk for an individual in the general population to have a child with the condition. A few cases of autosomal recessive forms of SEDC have been reported.[3]

Germline mosaicism has also been reported for this condition.[3] In this case, the parent does not have the mutated gene in all the cells of the body (and is not affected), but only in some of the germ cells (sperm or egg cells). The recurrence risk for a parent with germline mosaicism to have another affected child is difficult to predict. For conditions with autosomal dominant inheritance, studies have demonstrated that the risk to have another affected child may be low (about 1%), moderate (about 6%), or higher (about 30%), depending on the proportion of germ cells with the mutation as well as the disorder itself.[4]
Last updated: 1/11/2012

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Spondyloepiphyseal dysplasia congenita. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Spondyloepiphyseal dysplasia congenita:
    International Skeletal Dysplasia Registry (ISDR)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Spondyloepiphyseal dysplasia congenita. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spondyloepiphyseal dysplasia congenita. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have a 7 year old daughter with this condition. What are the chances of having another child with the same condition? See answer


  1. Spondyloepiphyseal dysplasia congenita. Genetics Home Reference. July 2008; http://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita. Accessed 5/11/2011.
  2. Spondyloepiphyseal dysplasia congenita. Genetics Home Reference. July 2008; http://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita. Accessed 1/11/2012.
  3. Shital Parikh. Spondyloepiphyseal Dysplasia. eMedicine. August 19, 2011; http://emedicine.medscape.com/article/1260836-overview. Accessed 1/11/2012.
  4. Germline Mosaicism. Inherited Health. May 29, 2009; http://www.inheritedhealth.com/info/condition.aspx?topic=162. Accessed 1/11/2012.