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orofaciodigital syndrome V

MeSH: C557819ORPHA: 2919

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 orofaciodigital syndrome V, sourced from HPO and Orphanet clinical annotations.

Aganglionic megacolonScoliosisHigh, narrow palateCrossed fused renal ectopiaPostaxial polysyndactyly of footEnamel hypoplasiaEctopic accessory finger-like appendageAbsent cupid's bowSupernumerary toothAgenesis of canineNon-midline cleft of the upper lipMedian cleft upper lipPostaxial hand polydactylyPostaxial foot polydactylyAccessory oral frenulumAbnormality of the philtrumHypertelorismIntellectual disabilityFrontal bossingBifid tongueCleft soft palateAbnormal oral frenulum morphologyBifid uvulaMicrocephalyHypodontiaAgenesis of corpus callosumTetralogy of Fallot

Classification & Codes

MeSH Code

C557819

Orphanet Code

ORPHA:2919
orofaciodigital syndrome V
MeSHC557819
OrphanetORPHA:2919
Treatments0 drug(s)
Symptoms on record27 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO