hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
Findings
No curated finding names hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
Definition from the Mondo Disease Ontology (MONDO:0010972), read 2026-09-29. CC BY 4.0.
Features
29 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.
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)
- Sprengel anomalyHPOHP:0000912
- Very frequent (80% to 99% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Frequent (30% to 79% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Frequent (30% to 79% of cases)
- Abnormal vertebral body morphology
Show the remaining 17
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- HemivertebraeHPOHP:0002937
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- Also called
- Ferlini-Ragno-Calzolari syndromeWaaler-Aarskog syndrome