lower limb deficiency-hypospadias syndrome
Findings
No curated finding names lower limb deficiency-hypospadias syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977.
Definition from the Mondo Disease Ontology (MONDO:0016639), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- Very frequent (80% to 99% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Frequent (30% to 79% of cases)
- Abnormality of the spleenHPOHP:0001743
- Frequent (30% to 79% of cases)
- Abnormality of the ureterHPOHP:0000069
- Frequent (30% to 79% of cases)
- Lower limb asymmetryHPOHP:0100559
- Frequent (30% to 79% of cases)
- Macrotia
Where it sits
- A kind of
Other names
1 name
Resolves to: lower limb deficiency-hypospadias syndrome
- Also called
- Fried-Goldberg-Mundel syndrome