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brachydactyly type B2

ORPHA: 140908

Contents

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

Overview

brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has material basis in mutations in the NOG gene on chromosome 17q22

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 B2, sourced from HPO and Orphanet clinical annotations.

Short footAbsent fingernailShort toeShort distal phalanx of toeSynostosis of carpal bonesType B brachydactylyFinger syndactylyShort distal phalanx of finger

Classification & Codes

Orphanet Code

ORPHA:140908
brachydactyly type B2
OrphanetORPHA:140908
Treatments0 drug(s)
Symptoms on record8 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO