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Disease Profile
Spondylocarpotarsal synostosis syndrome
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
Infancy
ICD-10
Q76.4
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)
Spondylocarpotarsal syndrome; SCT; Synspondylism congenital;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Spondylocarpotarsal synostosis (SCT)
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
|
---|---|---|
1%-4% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
0000007 | ||
Block vertebrae | 0003305 | |
Bowed humerus |
Bowed long bone in upper arm
|
0003865 |
Short fingers or toes
|
0001156 | |
Broad face |
Increased breadth of face
Increased width of face
Wide face
[ more ] |
0000283 |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
C2-C3 subluxation | 0008456 | |
Capitate-hamate fusion | 0001241 | |
Carpal synostosis | 0009702 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cleft roof of mouth
|
0000175 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Coxa vara | 0002812 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Disproportionate short-trunk |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ] |
0003521 |
Epiphyseal dysplasia |
Abnormal development of the ends of long bones in arms and legs
|
0002656 |
Failure of eruption of permanent teeth | 0006352 | |
Frontal bossing | 0002007 | |
Hyperlordosis |
Prominent swayback
|
0003307 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Hypoplasia of the odontoid process | 0003311 | |
Inguinal hernia | 0000023 | |
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 |
Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ] |
0000410 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Platybasia | 0002691 | |
Preauricular skin tag | 0000384 | |
Renal cyst |
Kidney cyst
|
0000107 |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Scapular winging |
Winged shoulder blade
|
0003691 |
0002650 | ||
Sensorineural hearing impairment | 0000407 | |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short neck |
Decreased length of neck
|
0000470 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Small foramen magnum |
Little foramen magnum
Narrow foramen magnum
[ more ] |
0002677 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Tarsal synostosis |
Fused ankle bones
|
0008368 |
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.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis may include isolated Klippel-Feil syndrome and other vertebral dysplasias, such as autosomal dominant spondylocostal dysplasia and multiple synostoses syndrome.
Visit the Orphanet disease page for more information.
|
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
-
Scoliosis Research Society (SRS)
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Telephone: +1-414-289-9107
Fax: +1-414-276-3349
E-mail: [email protected]
Website: https://www.srs.org/
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 Spondylocarpotarsal synostosis syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Spondylocarpotarsal synostosis syndrome. Click on the link to view a sample search on this topic.
References
- Robertson S. FLNB-Related Disorders. GeneReviews. October 2008; https://www.ncbi.nlm.nih.gov/books/NBK2534/. Accessed 2/26/2013.