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Brachymorphism-onychodysplasia-dysphalangism syndrome

MeSH: C536242ORPHA: 1292

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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 Brachymorphism-onychodysplasia-dysphalangism syndrome, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaWide mouthBrachycephalyMicrocephalyMalar flatteningCoarse facial featuresEpicanthusPointed chinTriangular faceLong philtrumHigh foreheadWide nasal bridgeProminent noseStrabismusThick eyebrowBrachydactylyMild intellectual disabilityIntrauterine growth retardationUmbilical herniaAtrial septal defectAbnormal mitral valve morphologyHypoplastic toenailsAbsent toenailHypoplastic fingernailAbsent fingernailShort distal phalanx of toeFrontal bossingAbnormality of the respiratory systemGeneralized hirsutismDelayed skeletal maturationClinodactyly of the 5th fingerShort statureBiparietal narrowingHypoplastic fifth fingernailHigh anterior hairlineToenail dysplasiaFingernail dysplasia

Classification & Codes

MeSH Code

C536242

Orphanet Code

ORPHA:1292
Brachymorphism-onychodysplasia-dysphalangism syndrome
MeSHC536242
OrphanetORPHA:1292
Treatments0 drug(s)
Symptoms on record37 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO