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

Congenital Amegakaryocytic Thrombocytopenia with Radio-Ulnar Synostosis (CTRUS)

radio-ulnar synostosis, sensorineural hearing loss

autosomal dominant

Dyserythropoietic Anemia with Thrombocytopenia

anemia with variation in red cell size and shape

X-linked

Familial Platelet Disorder with Predisposition to AML

family members with myelodysplasia or AML

autosomal dominant

Paris Trousseau type, Jacobsen's syndrome

cardiac anomalies, facial anomalies, mental retardation

autosomal dominant

MYH9 related disorders

hearing loss, cataracts, renal dysfunction

autosomal dominant

thrombocytopenia with absent radii (TAR)

bilateral absent radii

autosomal recessive

Velocardiofacial Syndrome

cleft palate; cardiac anomalies, facial anomalies, learning disabilities

autosomal dominant

Wiskott-Aldrich Syndrome

severe immunodeficiency

X-linked

Congenital Amegakaryocytic Thrombocytopenia with Radio-Ulnar Synostosis (CTRUS)

reduced or absent megakaryocytes; occasional aplastic anemia; defect HOXA11 at 7p14-15

Dyserythropoietic Anemia with Thrombocytopenia

large platelets, dysmegakaryopoiesis, reduced expression of GPIb in some platelets, GATA1 at Xp11

Familial Platelet Disorder with Predisposition to AML

defect CBFA2 at 21q22

Paris Trousseau type, Jacobsen's syndrome

giant platelet granules; defect CGS-FL1, ETS1

MYH9 related disorders

giant platelets, neutrophil inclusions, defect in MYH9 at 22q12-13

thrombocytopenia with absent radii (TAR)

reduced megakaryocytes

Velocardiofacial Syndrome

defective GPIb, GPIX, GPV; defect CGS-GPb-beta at 22q11

Wiskott-Aldrich Syndrome

small platelets, abnormal WAS protein at Xp11