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ulnar/fibula ray defect-brachydactyly syndrome

MeSH: C563905ORPHA: 52056

Contents

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

Overview

Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism

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 ulnar/fibula ray defect-brachydactyly syndrome, sourced from HPO and Orphanet clinical annotations.

Malar flatteningHemangiomaBrachydactylyGrowth delayAtrial septal defectTalipes equinovarusShort footShort staturePostaxial oligodactylyAplasia/Hypoplasia of the fibulaAplasia/Hypoplasia of the ulnaShort 5th finger

Classification & Codes

MeSH Code

C563905

Orphanet Code

ORPHA:52056
ulnar/fibula ray defect-brachydactyly syndrome
MeSHC563905
OrphanetORPHA:52056
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
ulnar/fibula ray defect-brachydactyly syndrome | OrphanDrug