aplasia cutis-enamel dysplasia syndrome

Findings

No curated finding names aplasia cutis-enamel dysplasia 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 · Childhood 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

• Mendelian neurodevelopmental disorder
• syndromic intellectual disability

Resolves to: aplasia cutis-enamel dysplasia syndrome

Also called

Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndromeFOSL2-related neurodevelopmental disorder