Robinow-Sorauf syndrome
MONDO:0008391Mondo
Findings
No curated finding names Robinow-Sorauf 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
- Infantile onset
HPO, annotations 2026-09-02
Features
9 features
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.
- Bilateral ptosisHPOHP:0001488
- 2 of 2 reported patients
- Broad halluxHPOHP:0010055
- 2 of 2 reported patients
- CraniosynostosisHPOHP:0001363
- 2 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- Duplication of the distal phalanx of the halluxHPOHP:0010084
- 2 of 2 reported patients
- Hallux valgusHPOHP:0001822
- 2 of 2 reported patients
- Broad thumbHPOHP:0011304
- 1 of 2 reported patients
- PansynostosisHPOHP:0011325
- 1 of 2 reported patients
- PlagiocephalyHPOHP:0001357
- 1 of 2 reported patients
Genes
1 gene
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.
- TWIST1HGNC:12428
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of