contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Findings

No curated finding names contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Congenital onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

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

• autosomal dominant disease
• contractures, pterygia, and variable skeletal fusions syndrome
• distal arthrogryposis

Resolves to: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

Also called

contractures, pterygia, and spondylocarpostarsal fusion syndrome 1Adistal arthrogryposis type 8multiple pterygium syndrome, autosomal dominant