radioulnar synostosis-microcephaly-scoliosis syndrome
MONDO:0011320Mondo
Findings
No curated finding names radioulnar synostosis-microcephaly-scoliosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0011320), read 2026-09-29. CC BY 4.0.
Features
19 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 dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Abnormality of the elbowHPOHP:0009811
- Very frequent (80% to 99% of cases)
- Abnormality of the philtrumHPOHP:0000288
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Pectus carinatumHPOHP:0000768
- Very frequent (80% to 99% of cases)
- Premature birthHPOHP:0001622
- Very frequent (80% to 99% of cases)
- Radioulnar synostosisHPOHP:0002974
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- SynophrysHPOHP:0000664
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: radioulnar synostosis-microcephaly-scoliosis syndrome
- Also called
- Giuffre-Tsukahara syndromeGiuffré-Tsukahara syndromeTsukahara syndrome