Robin sequence-oligodactyly syndrome
Findings
No curated finding names Robin sequence-oligodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.
Definition from the Mondo Disease Ontology (MONDO:0008247), read 2026-09-29. CC BY 4.0.
Features
11 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 morphology of ulnaHPOHP:0040071
- Very frequent (80% to 99% of cases)
- Finger aplasiaHPOHP:0009380
- Very frequent (80% to 99% of cases)
- GlossoptosisHPOHP:0000162
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Cleft palate
Where it sits
- A kind of
Other names
1 name
Resolves to: Robin sequence-oligodactyly syndrome
- Also called
- Pierre Robin sequence-oligodactyly syndrome