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brachydactyly type A1

ORPHA: 93388

Contents

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

Overview

brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes

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 brachydactyly type A1, sourced from HPO and Orphanet clinical annotations.

Distal finger symphalangismBroad metacarpalsTalipes equinovarusShort footScoliosisHypoplasia of the ulnaClinodactyly of the 5th fingerShort statureShort middle phalanx of fingerShort thumbShort halluxCone-shaped epiphysis

Classification & Codes

Orphanet Code

ORPHA:93388
brachydactyly type A1
OrphanetORPHA:93388
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO