hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome
MeSH: C536461ORPHA: 2180
Overview
This syndrome is characterised 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.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome, sourced from HPO and Orphanet clinical annotations.
HydrocephalusMandibular prognathiaSprengel anomalyHigh palateMacrocephalyMalar flatteningHypertelorismHigh foreheadLow-set earsBulbous noseWide nasal bridgeProminent noseAnteverted naresAbnormal dental enamel morphologyAtypical behaviorAbnormal rib morphologyCutaneous photosensitivityAbnormality of skin pigmentationBrachydactylyIntellectual disabilityObesitySandal gapScoliosisHemivertebraeAbnormal form of the vertebral bodiesDepressed nasal bridgeStrabismusMyopiaWide intermamillary distance
Classification & Codes
MeSH Code
C536461Orphanet Code
ORPHA:2180hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome
| MeSH | C536461 |
| Orphanet | ORPHA:2180 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO