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chromosome 6pter-p24 deletion syndrome

MeSH: C567239ORPHA: 96125

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 chromosome 6pter-p24 deletion syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the dentitionOrofacial cleftMalar flatteningEpicanthusHypertelorismSmooth philtrumShort philtrumBroad foreheadMicrognathiaHearing impairmentLow-set earsUnderdeveloped nasal alaeWide noseAnteverted naresStrabismusDownslanted palpebral fissuresGlaucomaAbnormal anterior chamber morphologyPosterior embryotoxonDelayed speech and language developmentMild intellectual disabilityGlobal developmental delayAtrial septal defectTalipes equinovarusShort footVentriculomegalyScoliosisDownturned corners of mouthVertebral segmentation defectClinodactyly of the 5th fingerShort palmDepressed nasal bridgeAbnormal epiphysis morphologyHypoplasia of the irisCorneal opacityHigh hypermetropiaEctopia pupillaeAnterior synechiae of the anterior chamberSelf-injurious behavior

Classification & Codes

MeSH Code

C567239

Orphanet Code

ORPHA:96125
chromosome 6pter-p24 deletion syndrome
MeSHC567239
OrphanetORPHA:96125
Treatments0 drug(s)
Symptoms on record39 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO