EN1-related dorsoventral syndrome
Findings
No curated finding names EN1-related dorsoventral syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A human mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.
Definition from the Mondo Disease Ontology (MONDO:1040032), read 2026-09-29. CC BY 4.0.
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.
- EN1HGNC:3342
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: EN1-related dorsoventral syndrome
- Also called
- ENDOVE syndromeENDOVES