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Oculo-palato-cerebral syndrome

MeSH: C564935ORPHA: 2714

Contents

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

Overview

Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities

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 Oculo-palato-cerebral syndrome, sourced from HPO and Orphanet clinical annotations.

MicrophthalmiaAsthmaCleft palateMicrocephalyThickened helicesMacrotiaCataractLeukocoriaIntellectual disabilitySpasticityGlobal developmental delayJoint hypermobilityIntrauterine growth retardationShort footHigh, narrow palateShort statureFrontal cortical atrophyAplasia/Hypoplasia of the corpus callosumRemnants of the hyaloid vascular systemAplasia/Hypoplasia of the nailsSmall handGlaucomaRetinal detachmentGlobal brain atrophy

Classification & Codes

MeSH Code

C564935

Orphanet Code

ORPHA:2714
Oculo-palato-cerebral syndrome
MeSHC564935
OrphanetORPHA:2714
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO