Disease: Spondylocarpotarsal Synostosis Syndrome

Name Spondylocarpotarsal Synostosis Syndrome

Synonyms SCOLIOSIS, CONGENITAL, WITH UNILATERAL UNSEGMENTED BAR , SPONDYLOCARPOTARSAL SYNDROME , SYNSPONDYLISM, CONGENITAL , VERTEBRAL FUSION WITH CARPAL COALITION

Classification bone, developmental, genetic

Phenotypes Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Autosomal recessive inheritance; Block vertebrae; Bowed humerus; Brachydactyly; Broad face; Broad nasal tip; C2-C3 subluxation; Capitate-hamate fusion; Carpal synostosis; Cataract; Cleft palate; Clinodactyly of the 5th finger; Delayed skeletal maturation; Disproportionate short-trunk short stature; Epiphyseal dysplasia; Hyperlordosis; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of the odontoid process; Mixed hearing impairment; Pes planus; Preauricular skin tag; Renal cyst; Restrictive ventilatory defect; Scoliosis; Sensorineural hearing impairment; Short neck; Short nose; Talipes equinovarus; Tarsal synostosis

Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP )

Mouse Orthologs Flnb (Withdrawn symbols: AL024016 )

Source OMIM:272460 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter