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Disease Profile

Spondylocarpotarsal synostosis syndrome

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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.

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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)

Spondylocarpotarsal syndrome; SCT; Synspondylism congenital;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosis and lordosis, carpal and tarsal fusion (fusion of the bones in the hands and feet), clubfoot, and facial abnormalities such as round face, large forehead, and up-turned nostrils. Other features can include cleft palate, deafness, loose joints, and poor formation of tooth enamel. SCT syndrome has been associated with retinal anomalies and cataracts. However, these eye problems are usually not severe enough to impair vision. This condition is caused by mutations in the FLNB gene. It is inherited in an autosomal recessive manner in families, which means that parents are usually unaffected and children have to have inherited a gene mutation from each parent.[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
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 pelvic girdle bone morphology
Abnormal shape of pelvic girdle bone
0002644
Autosomal recessive inheritance
0000007
Block vertebrae
0003305
Bowed humerus
Bowed long bone in upper arm
0003865
Brachydactyly
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
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cleft palate
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 short stature
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
Scoliosis
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.

    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 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

          1. Robertson S. FLNB-Related Disorders. GeneReviews. October 2008; https://www.ncbi.nlm.nih.gov/books/NBK2534/. Accessed 2/26/2013.