contractures-developmental delay-Pierre Robin syndrome
MONDO:0018571Mondo
Findings
No curated finding names contractures-developmental delay-Pierre Robin syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
36 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.
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Abnormal finger morphologyHPOHP:0001167
- Frequent (30% to 79% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
- Cerebral white matter hypoplasiaHPOHP:0012430
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- GlossoptosisHPOHP:0000162
- Frequent (30% to 79% of cases)
- Hip dysplasiaHPOHP:0001385
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Obstructive sleep apneaHPOHP:0002870
- Frequent (30% to 79% of cases)
- Overfolded helixHPOHP:0000396
- Frequent (30% to 79% of cases)
- Radioulnar synostosisHPOHP:0002974
- Frequent (30% to 79% of cases)
Show the remaining 24
- Short thumbHPOHP:0009778
- Frequent (30% to 79% of cases)
- SyringomyeliaHPOHP:0003396
- Frequent (30% to 79% of cases)
- Talipes equinovarusHPOHP:0001762
- Frequent (30% to 79% of cases)
- Abnormal columella morphologyHPOHP:0009929
- Occasional (5% to 29% of cases)
- Abnormal hippocampus morphologyHPOHP:0025100
- Occasional (5% to 29% of cases)
- Abnormality of frontal sinusHPOHP:0002687
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: contractures-developmental delay-Pierre Robin syndrome
- Also called
- 5q23 microdeletion syndrome