Rare Hematology News

Disease Profile

Spondyloepiphyseal dysplasia congenita

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q77.7

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

SEDC; SED congenita; Spondyloepiphyseal dysplasia, congenital type

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

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]

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.

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

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.

    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

      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.

          References

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

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