Inherited Thrombocytopenias with Syndromic Features Classification

Are you evaluating a patient with an inherited thrombocytopenia that shows syndromic features?

Yes

Does the patient have?

• a severe immunodeficiency?

Yes

• a cleft palate?

Yes

• other facial anomalies?

Yes

• cardiac anomalies?

Yes

• learning disability or mental retardation?

Yes

• hearing loss?

Yes

• cataracts?

Yes

• renal dysfunction?

Yes

• anemia with variation in red cell size and shape?

Yes

Does the patient have a family history of myelodysplasia or AML?

Yes

Defects in the forearms

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Data complete?

Evaluation appropriate?

Congenital Amegakaryocytic Thrombocytopenia with Radio-Ulnar Synostosis (CTRUS)

Dyserythropoietic Anemia with Thrombocytopenia

Familial Platelet Disorder with Predisposition to AML

Paris Trousseau type, Jacobsen's syndrome

MYH9 related disorders (May Hegglin, other)

Thrombocytopenia with absent radii (TAR)

Velocardiofacial Syndrome

Wiskott-Aldrich Syndrome

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Evaluation

Results

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Interpretation and Description

References

Specialty

Objective

ICD-10

Algorithm from the Gruppo di Studio delle Piastrine for Identifying Inherited Thrombocytopenias with Syndromic Features

Purpose: To evaluate a patient with an inherited thrombocytopenia that has syndromic features as repoted by the Gruppo di Studio dell Piastrine.

Evaluation

Results

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MedicalAlgorithms.com APIs

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Interpretation and Description

References

Specialty

Objective

ICD-10