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Symptoms and Signs – Differential Diagnosis of Inherited Bone Marrow Failure Syndromes
• Shwachman-Diamond syndrome
• Fanconi Anemia
• Dyskeratosis congenita
• Amegakaryocytic thrombocytopenia
• Other inherited thrombocytopenia disorders
• Other genetic syndromes
• Down syndrome
• Dubowitz syndrome
• Seckel’s syndrome
• Reticular dysgenesis
• Schimke immuno-osseous dysplasia
• Noonan’s syndrome
• Cartilage-hair hypoplasia
• Familial marrow failure (non-Fanconi)
• Diamond-Blackfan anemia
• Kostmann’s syndrome/congenital neutropenia
• ELA2 mutations
• HAX1 mutations
• GFII mutations
• WASP mutations
• Constitutive cell surface G-CSF-R mutations
• Barth syndrome
• Glycogen storage disease Ib
• Miscellaneous
• Thrombocytopenia with absent radii
• Congenital dyserythropoietic anemias (CDAs)
• Types I, II, III, IV
• Variants
• Nonclassifiable CDAs
• Groups IV, V, VI, VII
• Shwachman-Diamond syndrome
• Fanconi Anemia
• Dyskeratosis congenita
• Amegakaryocytic thrombocytopenia
• Other inherited thrombocytopenia disorders
• Other genetic syndromes
• Down syndrome
• Dubowitz syndrome
• Seckel’s syndrome
• Reticular dysgenesis
• Schimke immuno-osseous dysplasia
• Noonan’s syndrome
• Cartilage-hair hypoplasia
• Familial marrow failure (non-Fanconi)
• Diamond-Blackfan anemia
• Kostmann’s syndrome/congenital neutropenia
• ELA2 mutations
• HAX1 mutations
• GFII mutations
• WASP mutations
• Constitutive cell surface G-CSF-R mutations
• Barth syndrome
• Glycogen storage disease Ib
• Miscellaneous
• Thrombocytopenia with absent radii
• Congenital dyserythropoietic anemias (CDAs)
• Types I, II, III, IV
• Variants
• Nonclassifiable CDAs
• Groups IV, V, VI, VII
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