autosomal recessive multiple pterygium syndrome

Findings

No curated finding names autosomal recessive multiple pterygium syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Onset and course

Fetal 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 recessive disease
• multiple congenital anomalies/dysmorphic syndrome without intellectual disability
• multiple pterygium syndrome
• syndromic disease

Narrower terms (1)

• contractures, pterygia, and variable skeletal fusions syndrome 1B

Resolves to: autosomal recessive multiple pterygium syndrome

Also called

autosomal recessive non-lethal multiple pterygium syndromeEscobar syndromeEscobar variant multiple pterygium syndromeEVMPSmultiple pterygium syndrome, autosomal recessive