craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

Findings

No curated finding names craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 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

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

• craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome

Resolves to: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

Also called

cerebrofaciothoracic dysplasiaCFSMR1pascual-Castroviejo syndrome type 1