Bartsocas-Papas syndrome 1

Findings

No curated finding names Bartsocas-Papas syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Congenital onset · 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

• ectodermal dysplasia syndrome
• hereditary lethal multiple congenital anomalies/dysmorphic syndrome
• popliteal pterygium syndrome

Resolves to: Bartsocas-Papas syndrome 1

Also called

autosomal recessive popliteal pterygium syndromeBartsocas Papas syndromeBartsocas-Papas syndromelethal popliteal pterygium syndromepopliteal pterygium syndrome, Bartsocas-Papas type 1popliteal pterygium syndrome, lethal type