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radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ORPHA: 71289

Contents

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

Overview

gene (7p15)

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 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome, sourced from HPO and Orphanet clinical annotations.

Sensorineural hearing impairmentHip dysplasiaRadioulnar synostosisClinodactyly of the 5th fingerAmegakaryocytic thrombocytopeniaFinger syndactyly

Classification & Codes

Orphanet Code

ORPHA:71289
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
OrphanetORPHA:71289
Treatments0 drug(s)
Symptoms on record6 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | OrphanDrug