Paris-Trousseau syndrome

Paris-Trousseau syndrome
portrait of Fernando Martínez Sáez
Written by

Fernando Martínez Sáez
Medically reviewed by our Medical staff

Last update: 06-04-2022

How else can it be called?

  • 11q23 deletion syndrome

  • Paris-Trousseau thrombocytopenia

  • Jacobsen syndrome

  • ICD-10: D69.4

What is Paris-Trousseau syndrome?

Paris-Trousseau thrombocytopenia or Paris-Trousseau syndrome is a congenital disorder caused by partial deletions of 11q23 gene accompanied by developmental abnormalities, cardiac and gastrointestinal defects and dysmorphic facial features.

Paris-Trousseau syndrome is a type of hereditary macrothrombocytopenia and it is associated with giant platelets, thrombocytopenia (low platelet count), dysmegakaryopoiesis and platelet inclusion bodies.

What are the main causes?

It is a genetic disease resulting from partial deletion of the long arm of chromosome 11 (11q23). It may be related to a mutation on FLI-1 gene, a critical transcription factor responsible for terminal megakaryocyte differentiation.

It is inherited with autosomal recessive pattern. It means that it is necessary to inherit one copy of a mutated (changed) gene from each parent.

What incidence does it have?

Paris-Trousseau syndrome is a rare disorder with an estimated incidence is less than 1 case per 1 million people.

What are the main symptoms of Paris-Trousseau syndrome?

The most common symptoms of the disorder are:

  • Mild bleeding tendency
  • Growth retardation
  • Intellectual disability
  • Abnormality of the cardiovascular system (usually heart defects), central nervous system, gastrointestinal (pyloric stenosis) or urinary tract
  • Risk of thrombosis

In addition, people with Paris-Trousseau syndrome usually have musculoskeletal disorders and a typical facial dysmorphism:

  • Clinodactyly (bent or curved fingers)
  • Micrognathia (little lower jaw)
  • Palpebral ptosis (abnormal drooping of the upper eyelid)
  • Trigonocephaly (triangular forehead with close-set eyes)

What is the recommended treatment?

The recommended treatment is based on supportive measures, including local measures to avoid prolonged bleeding and platelet transfusion in case of severe bleeding.

Medically reviewed by our Medical staff on 06-04-2022


  • Autoimmune Thrombocytopenia. 2017. Yoji Ishida, Yoshiaki Tomiyama. Pag 125. ISBN 978-981-10-4141-9.

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