Term Name: contractures, pterygia, and spondylocarpotarsal fusion syndrome
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.
Ontology: Human Disease [DOID:0080110]   ( DOID:0080110 )

Relationships
is a type of: monogenic disease skin disease syndrome
has subtype: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B