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microcephaly-cervical spine fusion anomalies syndrome

MeSH: C537325ORPHA: 2522

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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 microcephaly-cervical spine fusion anomalies syndrome, sourced from HPO and Orphanet clinical annotations.

HypospadiasAbnormality of the ureterMicrocephalySloping foreheadMicrognathiaLow-set earsConvex nasal ridgeShort neckPtosisProptosisPectus excavatumAbnormal rib morphologyAbnormal clavicle morphologyMild intellectual disabilityHyperreflexiaAbnormal speech patternSpinal cord compressionKyphosisFused cervical vertebraeAbnormal hip bone morphologyHyperlordosisAbnormal reticulocyte morphologyShort statureAbnormal dental morphologyMalar prominenceHyperplasia of midface

Classification & Codes

MeSH Code

C537325

Orphanet Code

ORPHA:2522
microcephaly-cervical spine fusion anomalies syndrome
MeSHC537325
OrphanetORPHA:2522
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO