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chromosome 17p13.3 duplication syndrome

MeSH: C567705ORPHA: 217385

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 17p13.3 duplication syndrome, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaTall statureNarrow mouthHigh palateHypertelorismHigh foreheadLow-set earsWide noseShort neckDownslanted palpebral fissuresHypotoniaGlobal developmental delayCongenital hip dislocationFrontal bossingHypoplasia of the corpus callosumVentriculomegalyShort noseClinodactyly of the 5th fingerHypoplasia of penis

Classification & Codes

MeSH Code

C567705

Orphanet Code

ORPHA:217385
chromosome 17p13.3 duplication syndrome
MeSHC567705
OrphanetORPHA:217385
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
chromosome 17p13.3 duplication syndrome | OrphanDrug