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chromosome 18p deletion syndrome

MeSH: C538309ORPHA: 1598

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 18p deletion syndrome, sourced from HPO and Orphanet clinical annotations.

Short philtrumProtruding earHypodontiaDelayed speech and language developmentBrachydactylyIntellectual disabilityGlobal developmental delayShort statureAbnormal antihelix morphologyCleft palateBrachycephalyMicrocephalyEpicanthusMicrognathiaMacrotiaWide nasal bridgeWebbed neckShort neckPtosisCarious teethTooth malpositionPectus excavatumHypertensionHypotoniaLow posterior hairlineDownturned corners of mouthKyphoscoliosisWide intermamillary distanceEnlarged thoraxMicrophthalmiaAtypical behaviorHypothyroidismLymphedemaHoloprosencephalyAlopeciaAutoimmunityGeneralized dystoniaAbnormal cardiovascular system morphology

Classification & Codes

MeSH Code

C538309

Orphanet Code

ORPHA:1598
chromosome 18p deletion syndrome
MeSHC538309
OrphanetORPHA:1598
Treatments0 drug(s)
Symptoms on record38 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO