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thumb stiffness-brachydactyly-intellectual disability syndrome

MeSH: C537511ORPHA: 1078

Contents

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

Overview

medical condition

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 thumb stiffness-brachydactyly-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal thumb morphologyIntellectual disabilityJoint stiffnessAbnormal metacarpal morphologyType A brachydactylyObesity

Classification & Codes

MeSH Code

C537511

Orphanet Code

ORPHA:1078
thumb stiffness-brachydactyly-intellectual disability syndrome
MeSHC537511
OrphanetORPHA:1078
Treatments0 drug(s)
Symptoms on record6 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO