Freeman-Sheldon syndrome

Findings

No curated finding names Freeman-Sheldon syndrome 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 · Infantile 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

• arthrogryposis
• congenital nervous system disorder
• distal arthrogryposis
• multiple congenital anomalies/dysmorphic syndrome without intellectual disability
• syndromic disease

Narrower terms (1)

• whistling face syndrome, recessive form

Resolves to: Freeman-Sheldon syndrome

Also called

arthrogryposis, distal, type 2A (Freeman-Sheldon)cranio-carpo-tarsal syndromeCraniocarpotarsal dysplasiaCraniocarpotarsal dystrophydistal arthrogryposis type 2AFreeman Sheldon Syndromewhistling face syndromewhistling face-windmill vane hand syndromewhistling-face syndromewindmill-vane-hand syndrome