Spondyloepiphyseal dysplasia congenita

Title

Other Names:

SEDC; SED congenita; Spondyloepiphyseal dysplasia, congenital type

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary

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

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	Abnormal curving of the spine	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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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

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

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

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

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
Institute of Genetic Medicine
600 North Wolfe Street
Blalock 1008
Baltimore, MD 21287
Telephone: 410-614-0977
E-mail: deedee@jhmi.edu
Website: http://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinic/about/greenberg-center-skeletal-dysplasia/

Organizations Organizations

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

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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