thoracic dysplasia-hydrocephalus syndrome
MONDO:0010115Mondo
Findings
No curated finding names thoracic dysplasia-hydrocephalus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
13 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.
- Communicating hydrocephalusHPOHP:0001334
- Very frequent (80% to 99% of cases)
- Limb undergrowthHPOHP:0009826
- Very frequent (80% to 99% of cases)
- Narrow chestHPOHP:0000774
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Respiratory failureHPOHP:0002878
- Frequent (30% to 79% of cases)
Show the remaining 1
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
Where it sits
- A kind of