Guttmacher syndrome
Findings
No curated finding names Guttmacher syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.
Definition from the Mondo Disease Ontology (MONDO:0008301), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Glanular hypospadiasHPOHP:0000807
- 2 of 2 reported patients · Male
- Postaxial hand polydactylyHPOHP:0001162
- 3 of 3 reported patients
- Short 2nd toeHPOHP:0001885
- 3 of 3 reported patients
- Short thumbHPOHP:0009778
- 3 of 3 reported patients
- Short 5th fingerHPOHP:0009237
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.
- HOXA13HGNC:5102
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: Guttmacher syndrome
- Also called
- preaxial deficiency-postaxial polydactyly-hypospadias syndrome