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chromosome 13q14 deletion syndrome

MeSH: C535484ORPHA: 1587

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 13q14 deletion syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyHypertelorismThickened helicesProminent nasal bridgeWide nasal bridgeIntellectual disabilityIntrauterine growth retardationShort statureTrigonocephalyEpicanthusMicrognathiaLow-set earsProtruding earShort neckPtosisCataractMicrophthalmiaIris colobomaBrachydactylyHypotoniaClinodactyly of the 5th fingerFinger syndactylyAbnormal dermatoglyphicsRetinoblastomaAbnormal cardiovascular system morphologyWebbed neckHoloprosencephalyHypoplasia of the corpus callosumAplasia/Hypoplasia of the thumbAbnormality of the gastrointestinal tract

Classification & Codes

MeSH Code

C535484

Orphanet Code

ORPHA:1587
chromosome 13q14 deletion syndrome
MeSHC535484
OrphanetORPHA:1587
Treatments0 drug(s)
Symptoms on record30 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO