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  3. Spondyloepiphyseal dysplasia congenita
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Spondyloepiphyseal dysplasia congenita


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Other Names:
SEDC; SED congenita; Spondyloepiphyseal dysplasia, congenital type
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary


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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

Symptoms Symptoms


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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.

Showing of 59 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Disproportionate short-trunk short stature
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ]
0003521
Dysplasia of the femoral head 0010575
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Scoliosis 0002650
30%-79% of people have these symptoms
Abnormally ossified vertebrae
Abnormal bone maturation of vertebra
0100569
Coarse facial features
Coarse facial appearance
0000280
Flat acetabular roof 0003180
Flat face
Flat facial shape
0012368
Genu valgum
Knock knees
0002857
Hip pain 0030838
Increased head circumference 0040194
Kyphosis
Hunched back
Round back
[ more ]
0002808
Osteoporosis 0000939
Platyspondyly
Flattened vertebrae
0000926
Short neck
Decreased length of neck
0000470
Upper limb undergrowth
Short arms
Shortening of the arms
[ more ]
0009824
5%-29% of people have these symptoms
Abnormal foot morphology
Abnormal feet structure
Abnormality of the feet
Abnormality of the foot
Foot deformities
Foot deformity
[ more ]
0001760
Back pain 0003418
Barrel-shaped chest
Barrel chest
0001552
Cervical instability 0008462
Cleft palate
Cleft roof of mouth
0000175
Functional respiratory abnormality 0002795
Glossoptosis
Retraction of the tongue
0000162
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Knee pain 0030839
Laryngotracheomalacia 0008755
Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ]
0002996
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Motor delay 0001270
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
0000545
Retinal detachment
Detached retina
0000541
Short femoral neck
Short neck of thighbone
0100864
Short femur
Short thighbone
0003097
Small epiphyses
Small end part of bone
0010585
Spinal cord compression
Pressure on spinal cord
0002176
Spinal rigidity
Reduced spine movement
0003306
Waddling gait
'Waddling' gait
Waddling walk
[ more ]
0002515
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Cervical myelopathy 0002318
Coxa vara 0002812
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 hip movement 0008800
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
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
0001762
Vitreoretinopathy 0007773
Showing of 59 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance


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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

Diagnosis Diagnosis


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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.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research


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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.
  • European Skeletal Dysplasia Network
    Institute of Genetic Medicine
    Newcastle University
    International Centre for Life
    Central Parkway
    New Castle upon Tyne
    NE1 3BZ, United Kingdom
    E-mail: info@esdn.org
    Website: http://www.esdn.org/eug/Home

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)
     
  • Greenberg Center for Skeletal Dysplasias
    Johns Hopkins University
    McKusick-Nathans Institute of Genetic Medicine
    600 North Wolfe Street
    Baltimore, MD 21287
    Telephone: 410-614-0977
    Website: https://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinics/about/greenberg-center-skeletal-dysplasia/

Organizations Organizations


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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

  • Little People of America, Inc.
    617 Broadway #518
    Sonoma, CA 95476
    Toll-free: 1-888-572-2001
    Telephone: +1-714-368-3689
    Fax: +1-707-721-1896
    E-mail: info@lpaonline.org
    Website: https://www.lpaonline.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

GARD Answers GARD Answers


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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


Have a question? Contact a GARD Information Specialist.

References References


  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.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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