Spondylocarpotarsal synostosis syndrome

Preferred Label : Spondylocarpotarsal synostosis syndrome;

Symbol : SCT;

CISMeF acronym : SCT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vertebral fusion with carpal coalition; Synspondylism, congenital; Scoliosis, congenital, with unilateral unsegmented bar; Spondylocarpotarsal syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta filamin B gene (FLNB, 603381.0001);

Prefixed ID : #272460;

Details

Origin ID

272460;

UMLS CUI

C1848934;

Automatic exact mappings (from CISMeF team)
- AML Stem Cell Transplant Table [NCIt concept]
- EWS Stem Cell Transplant Table [NCIt concept]
- Prepro-Secretin [NCIt concept]
- SCT Gene [NCIt concept]
- Secretin [NCIt concept]
- Sluggish Cognitive Tempo [MeSH Descriptor]
- Spiral CT [NCIt concept]
- secretin [HGNC gene]
- sertoli cell tumor [MeSH Descriptor]
- sertoli cell tumor [MeSH concept]
Currated CISMeF NLP mapping
- Spondylocarpotarsal synostosis [MeSH concept]
- Spondylocarpotarsal synostosis [ORDO Disease]
- Spondylocarpotarsal synostosis syndrome (disorder) [SNOMED CT concept]
- Synspondylism [ICD-11 More detail]
- spondylocarpotarsal synostosis [MeSH Supplementary Concept]
- spondylocarpotarsal synostosis syndrome [DO Concept]
DO Cross reference
- spondylocarpotarsal synostosis syndrome [DO Concept]
False automatic mappings
- script concordance test [CISMeF resources Type]
Genes related to phenotype
- Filamin b [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Abnormality of retinal pigmentation [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Block vertebrae [HPO term]
- Bowed humerus [HPO term]
- Brachydactyly [HPO term]
- Broad face [HPO term]
- Broad nasal tip [HPO term]
- Broad, square nasal tip [HPO term]
- C2-C3 subluxation [HPO term]
- Capitate-hamate fusion [HPO term]
- Carpal synostosis [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coxa vara [HPO term]
- Delayed skeletal maturation [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Enamel hypoplasia [HPO term]
- Epiphyseal dysplasia [HPO term]
- Failure of eruption of permanent teeth [HPO term]
- Frontal bossing [HPO term]
- Hyperlordosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Inguinal hernia [HPO term]
- Limited elbow extension [HPO term]
- Lordosis [HPO term]
- Mixed hearing impairment [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Platybasia [HPO term]
- Preauricular skin tag [HPO term]
- Renal cyst [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short metacarpal [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Small foramen magnum [HPO term]
- Talipes equinovarus [HPO term]
- Tarsal synostosis [HPO term]
- Vertebral fusion [HPO term]
- Vertebral segmentation defect [HPO term]
ORDO concept(s)
- Spondylocarpotarsal synostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylocarpotarsal synostosis [MeSH concept]
- Spondylocarpotarsal synostosis [ORDO Disease]
- Spondylocarpotarsal synostosis syndrome (disorder) [SNOMED CT concept]
- Synspondylism [ICD-11 More detail]
- spondylocarpotarsal synostosis [MeSH Supplementary Concept]
- spondylocarpotarsal synostosis syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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