radioulnar synostosis with amegakaryocytic thrombocytopenia 1

ORPHA: 71289

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 radioulnar synostosis with amegakaryocytic thrombocytopenia 1, sourced from HPO and Orphanet clinical annotations.

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

Classification & Codes

Orphanet Code

ORPHA:71289
radioulnar synostosis with amegakaryocytic thrombocytopenia 1
OrphanetORPHA:71289
Treatments0 drug(s)
Symptoms on record6 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO