ZFIN Human Disease: spondylocarpotarsal synostosis syndrome

OBO ID: DOID:0090116

Term Name:	spondylocarpotarsal synostosis syndrome		Search Ontology:
Synonyms:	congenital scoliosis with unilateral unsegmented bar congenital synspondylism SCT spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition
Definition:	A bone development disease that is 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, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. (3)
References:	GARD:4974 ICD10CM:Q76.4 OMIM:272460 ORDO:3275
Ontology:	Human Disease ( DOID:0090116 )

Relationships

is a type of:	autosomal recessive disease bone development disease spinal disease autosomal recessive disease bone development disease spinal disease Show first 5 Terms

OTHER spondylocarpotarsal synostosis syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FLNB	flnb	Spondylocarpotarsal synostosis syndrome	272460

ZEBRAFISH MODELS

Fish	Conditions	Citations
smyhc1^{stl582/stl582}	standard conditions	Whittle et al., 2020

PHENOTYPE No data available

CITATIONS (1)