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Berk–Tabatznik syndrome

MeSH: C535432ORPHA: 1350

Contents

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

Overview

human disease

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 Berk–Tabatznik syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal clavicle morphologyBrachydactylyJoint stiffnessMicromeliaAbnormal shoulder morphologyAplasia/Hypoplasia of the radiusAplasia/Hypoplasia of the thumbAbnormality of the elbowArrhythmiaAbnormal morphology of ulnaHand polydactylyAbnormal metacarpal morphologyShort 4th metacarpalShort 5th metacarpalCryptorchidismAbnormality of the dentitionAbnormal palate morphologyIntellectual disabilityAsymmetry of the thoraxLow posterior hairlineAbnormality of the wristAnterior creases of earlobeAbnormal cardiovascular system morphologyHemiatrophyAbnormal humerus morphology

Classification & Codes

MeSH Code

C535432

Orphanet Code

ORPHA:1350
Berk–Tabatznik syndrome
MeSHC535432
OrphanetORPHA:1350
Treatments0 drug(s)
Symptoms on record25 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO