Robinow syndrome

Findings

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

Definition

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

• multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
• skeletal dysplasia
• syndromic disease

Narrower terms (3)

• autosomal dominant Robinow syndrome
• autosomal recessive Robinow syndrome
• robinow syndrome, autosomal recessive 2

Resolves to: Robinow syndrome

Also called

acral dysostosis with facial and genital abnormalitiesfetal face syndromefoetal face syndromemesomelic dwarfism-small genitalia syndromeRobinow dwarfismRobinow-Silverman-Smith syndrome