Spondylocarpotarsal Synostosis Syndrome (SCT)

Alias:
Vertebral Fusion with Carpal Coalition
Spondylocarpotarsal Syndrome
Sct
Congenital Scoliosis with Unilateral Unsegmented Bar
Spondylocarpotarsal Synostosis
Congenital Synspondylism
Synspondylism
Scoliosis, Congenital, with Unilateral Unsegmented Bar
Synspondylism, Congenital
Sct Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Spondylocarpotarsal Synostosis Syndrome, also known as vertebral fusion with carpal coalition, is related to synostosis and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b. An important gene associated with Spondylocarpotarsal Synostosis Syndrome is FLNB (Filamin B), and among its related pathways/superpathways is Striated muscle contraction pathway. Affiliated tissues include bone and eye, and related phenotypes are abnormality of retinal pigmentation and frontal bossing

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
21
107
15

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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