Spondylocarpotarsal Synostosis Syndrome

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OMIM 53 272460 Disease Ontology 12 DOID:0090116 ICD10 32 Q76.4 Q76.3 Orphanet 55 ORPHA3275 UMLS via Orphanet 70 C1848934

ICD10 via Orphanet 33 Q76.4 MedGen 39 C1848934 KEGG 36 H00499 SNOMED-CT via HPO 65 258211005 63567004 87979003 194021007 22006008 60700002 77507001 249327002 95427009 128306009 193570009 247053007 203534009 53226007 36485005 111266001 64217002 254080004 123983008 249310005 249710008 61960001 26597004 699382004 699421005 421689001 27173008 253930002 more UMLS 69 C1848934

NIH Rare Diseases : ⁴⁹ Spondylocarpotarsal synostosis (SCT) syndrome is an inherited syndrome characterized by disproportionate short stature, abnormalities of the vertebrae in the spine, scoliosisand 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 mutationsin 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. Last updated: 2/26/2013

MalaCards based summary : Spondylocarpotarsal Synostosis Syndrome, also known as vertebral fusion with carpal coalition, is related to synostosis and sacrococcygeal teratoma, and has symptoms including hypertelorism, short neck and scoliosis. An important gene associated with Spondylocarpotarsal Synostosis Syndrome is FLNB (Filamin B), and among its related pathways/superpathways is PAK Pathway. Affiliated tissues include bone, eye and lung.

Disease Ontology : ¹² A bone development disease characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism that has material basis in mutation in the FLNB gene on chromosome 3p14.3.

Genetics Home Reference : ²⁴ Spondylocarpotarsal synostosis syndrome is a disorder that affects the development of bones throughout the body. Newborns with this disorder are of approximately normal length, but impaired growth of the trunk results in short stature over time. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). The vertebral abnormalities may result in an abnormally curved lower back (lordosis) and a spine that curves to the side (scoliosis).

UniProtKB/Swiss-Prot : ⁷¹ Spondylocarpotarsal synostosis syndrome: Disorder characterized by short stature and vertebral, carpal and tarsal fusions.

Description from OMIM: 272460

Clinical features from OMIM:

272460

Search Clinical Trials , NIH Clinical Center for Spondylocarpotarsal Synostosis Syndrome

Search GEO for disease gene expression data for Spondylocarpotarsal Synostosis Syndrome.