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blepharophimosis-intellectual disability syndrome, Verloes type

MeSH: C565797ORPHA: 293725

Contents

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

Overview

human disease

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 blepharophimosis-intellectual disability syndrome, Verloes type, sourced from HPO and Orphanet clinical annotations.

BlepharophimosisAdducted thumbSeizureHypsarrhythmiaFloppy infantSevere intellectual disabilityModerate global developmental delayPrimary microcephalyAbnormal preputium morphologyCleft soft palateRetrognathiaFull cheeksRound faceSmooth philtrumShort philtrumPosteriorly rotated earsThickened helicesProminent antihelixBulbous noseDepressed nasal tipProminent noseGlanular hypospadiasOligohydramniosChoroid plexus cystAbnormal caudate nucleus morphologyProminent nasal tipDeep palmar creaseLateral ventricle dilatationPeriventricular leukomalaciaThick nasal alaeBroad columellaUnderdeveloped antitragus

Classification & Codes

MeSH Code

C565797

Orphanet Code

ORPHA:293725
blepharophimosis-intellectual disability syndrome, Verloes type
MeSHC565797
OrphanetORPHA:293725
Treatments0 drug(s)
Symptoms on record32 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO