splenogonadal fusion-limb defects-micrognathia syndrome
Findings
No curated finding names splenogonadal fusion-limb defects-micrognathia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.
Definition from the Mondo Disease Ontology (MONDO:0008460), read 2026-09-29. CC BY 4.0.
Features
28 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 femur morphologyHPOHP:0002823
- Very frequent (80% to 99% of cases)
- Abnormal fibula morphologyHPOHP:0002991
- Very frequent (80% to 99% of cases)
- Abnormality of the kneeHPOHP:0002815
- Very frequent (80% to 99% of cases)
- Abnormality of the skinHPOHP:0000951
- Very frequent (80% to 99% of cases)
- Abnormality of the upper limbHPOHP:0002817
- Very frequent (80% to 99% of cases)
- Abnormality of the wristHPOHP:0003019
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Upper limb asymmetryHPOHP:0100560
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Abnormal lung lobationHPOHP:0002101
- Occasional (5% to 29% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Occasional (5% to 29% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Occasional (5% to 29% of cases)
- Anal atresiaHPOHP:0002023
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: splenogonadal fusion-limb defects-micrognathia syndrome
- Also called
- SGFLD syndrome