Richieri Costa-da Silva syndrome
MONDO:0009716Mondo
Findings
No curated finding names Richieri Costa-da Silva syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
25 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.
- Generalized bone demineralizationHPOHP:0006462
- Very frequent (80% to 99% of cases)
- Handgrip myotoniaHPOHP:0012899
- Very frequent (80% to 99% of cases)
- Intermittent painful muscle spasmsHPOHP:0011964
- Very frequent (80% to 99% of cases)
- KyphoscoliosisHPOHP:0002751
- Very frequent (80% to 99% of cases)
- Myotonia of the upper limbHPOHP:0012903
- Very frequent (80% to 99% of cases)
- Pectus carinatumHPOHP:0000768
- Very frequent (80% to 99% of cases)
- Profound intellectual disabilityHPOHP:0002187
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Decreased anterioposterior diameter of lumbar vertebral bodiesHPOHP:0005638
- Frequent (30% to 79% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- EMG: myokymic dischargesHPOHP:0100288
- Frequent (30% to 79% of cases)
Reported absent (11)
- Abnormality of the dentitionHPOHP:0000164
- Abnormally high-pitched voiceHPOHP:0001620
- BlepharophimosisHPOHP:0000581
- Diastasis rectiHPOHP:0001540
- Flat faceHPOHP:0012368
- Joint dislocationHPOHP:0001373
- Limitation of joint mobilityHPOHP:0001376
- Low anterior hairlineHPOHP:0000294
- Low-set earsHPO
Show the remaining 13
- FallsHPOHP:0002527
- Frequent (30% to 79% of cases)
- Skeletal muscle hypertrophyHPOHP:0003712
- Frequent (30% to 79% of cases)
- Vertebral wedgingHPOHP:0008422
- Frequent (30% to 79% of cases)
- Weak voiceHPOHP:0001621
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Occasional (5% to 29% of cases)
- Asymmetric limb muscle stiffnessHPOHP:0007156
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: Richieri Costa-da Silva syndrome
- Also called
- myotonia-intellectual disability-skeletal anomalies syndrome