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Cole-Carpenter syndrome

MeSH: C535963ORPHA: 2050

Contents

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

Overview

osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance

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 Cole-Carpenter syndrome, sourced from HPO and Orphanet clinical annotations.

MicrognathiaProptosisBlue scleraeDelayed eruption of teethAbnormal rib morphologyAbnormal metaphysis morphologyAbnormality of the voiceFrontal bossingSkeletal dysplasiaAbnormal form of the vertebral bodiesShort statureCrumpled long bonesBowing of the long bonesMidface retrusionTurricephalyAbnormal dental enamel morphologyHypotoniaCommunicating hydrocephalusIntrauterine growth retardationWormian bonesScoliosisRecurrent fracturesKyphosisDownslanted palpebral fissuresGlobal developmental delayJoint hypermobility

Classification & Codes

MeSH Code

C535963

Orphanet Code

ORPHA:2050
Cole-Carpenter syndrome
MeSHC535963
OrphanetORPHA:2050
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO