contractures, pterygia, and spondylocarpotarsal fusion syndrome

Term ID

DOID:0080110

Synonyms

multiple pterygium syndrome

Definition

A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. (4)

References

MESH:C537377
OMIM:253290
OMIM:265000
OMIM:312150
OMIM:PS178110

Ontology

Human Disease ( DOID:0080110 )

Relationships

is a type of: monogenic disease syndrome

monogenic disease syndrome Show first 5 Terms
has subtype: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations