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Disease Profile
Spondyloperipheral dysplasia
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
Other names (AKA)
Spondyloperipheral dysplasia with short ulna
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 1856
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormality of the hip joint | 0001384 | |
Abnormality of the vertebral endplates | 0005106 | |
Cleft roof of mouth
|
0000175 | |
Delayed pubic bone ossification | 0008788 | |
Disproportionate |
0003498 | |
Flattened epiphysis |
Flat end part of bone
|
0003071 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
Irregular epiphyses |
Irregular end part of long bone
|
0010582 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Type E |
0005863 | |
5%-29% of people have these symptoms | ||
Arthralgia of the hip |
Hip joint pain
|
0003365 |
Broad hallux |
Broad big toe
Wide big toe
[ more ] |
0010055 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Flattened femoral head |
Flat head of thigh bone
|
0008812 |
Hip dysplasia | 0001385 | |
Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] |
0001377 |
Ovoid vertebral bodies | 0003300 | |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Retinal detachment |
Detached retina
|
0000541 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Talipes | 0001883 | |
Percent of people who have these symptoms is not available through HPO | ||
Absent styloid process of ulna | 0005068 | |
Acetabular spurs | 0010454 | |
0000006 | ||
Barrel-shaped chest |
Barrel chest
|
0001552 |
Brachydactyly |
Short fingers or toes
|
0001156 |
Broad palm |
Broad hand
Broad hands
Wide palm
[ more ] |
0001169 |
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 |
Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
Flat acetabular roof | 0003180 | |
Flat capital femoral epiphysis |
Flat end part of innermost thighbone
|
0003370 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pugilistic facies |
Boxer-like facial appearance
|
0000339 |
Sensorineural hearing impairment | 0000407 | |
Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
Short distal phalanx of the 2nd finger |
Short outermost bone of the index finger
|
0009566 |
Short distal phalanx of the 3rd finger |
Short outermost bone of the middle finger
|
0004180 |
Short distal phalanx of the 4th finger |
Short outermost bone of ring finger
|
0009290 |
Short distal phalanx of the 5th finger |
Short outermost little finger bone
Short outermost pinkie finger bone
Short outermost pinky finger bone
[ more ] |
0004227 |
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Short thumb |
Short thumbs
Small thumbs
[ more ] |
0009778 |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 |
Shortening of all middle phalanges of the fingers | 0006110 | |
Shortening of all proximal phalanges of the fingers |
Shortening of all innermost bones of the fingers
|
0006144 |
Spondyloepiphyseal dysplasia | 0002655 |
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.
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 Spondyloperipheral dysplasia. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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 Spondyloperipheral dysplasia. Click on the link to view a sample search on this topic.