contractures, pterygia, and variable skeletal fusions syndrome

Findings

No curated finding names contractures, pterygia, and variable skeletal fusions syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary disease
• multiple pterygium syndrome

Narrower terms (2)

• contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
• contractures, pterygia, and variable skeletal fusions syndrome 1B