oculodentodigital dysplasia

Findings

No curated finding names oculodentodigital dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

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
• eye disorder
• multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
• skeletal dysplasia

Narrower terms (1)

• oculodentodigital dysplasia, autosomal recessive

Resolves to: oculodentodigital dysplasia

Also called

Meyer-Schwickerath syndromeOculo-Dento-Digital Dysplasiaoculodentoosseous dysplasiaodd syndromeODDD syndrome