Clinical features of inherited marrow failure syndromes. Common features of the inherited marrow failure syndromes are summarized. This list is not meant to be exhaustive and the association of any congenital anomalies together with marrow failure warrants consideration of an inherited syndrome.
| . | Fanconi anemia . | Dyskeratosis congenita . | Shwachman-Diamond syndrome . | Congenital amegakaryocytic thrombocytopenia . | Diamond-Blackfan anemia . |
|---|---|---|---|---|---|
| Clinical Features | |||||
| Growth | X | X | X | X | |
| Skin | X | X | X | ||
| Facial features | X | X | |||
| Ocular | X | X | |||
| Ear/hearing | X | ||||
| Cleft palate or receding chin | X | ||||
| Dental | X | X | X | ||
| Leukoplakia | X | ||||
| Hair loss, premature greying | X | ||||
| Nail dystrophy | X | ||||
| Pulmonary | X | ||||
| Cardiac | X | X | X | X | |
| GI | X | X | X | ||
| Liver | X | X | X | ||
| GU | X | X | X | ||
| Endocrinopathies | X | X | X | ||
| Hypogonadism | X | X | |||
| Skeletal | X | X | X | ||
| Thumb/radial | X | X | |||
| Osteopenia | X | X | X | X | |
| Neurology | X | X | X | X | X |
| Immunology | X | X | |||
| Associated Malignancies | |||||
| Leukemia (usually AML) | X | X | X | X | X |
| Lymphoma | X | ||||
| Squamous cell carcinomas: | |||||
| Head and neck | X | X | |||
| GI tract | X | X | |||
| Female genital tract | X | X | |||
| Adenocarcinomas: | |||||
| GI tract/anorectal | X | X | |||
| Lung | X | ||||
| Skin | X | ||||
| Liver | X | X | |||
| Brain | X | ||||
| Wilm’s | X | ||||
| Osteosarcoma | X | ||||
| Soft Tissue Sarcomas | X | ||||
| . | Fanconi anemia . | Dyskeratosis congenita . | Shwachman-Diamond syndrome . | Congenital amegakaryocytic thrombocytopenia . | Diamond-Blackfan anemia . |
|---|---|---|---|---|---|
| Clinical Features | |||||
| Growth | X | X | X | X | |
| Skin | X | X | X | ||
| Facial features | X | X | |||
| Ocular | X | X | |||
| Ear/hearing | X | ||||
| Cleft palate or receding chin | X | ||||
| Dental | X | X | X | ||
| Leukoplakia | X | ||||
| Hair loss, premature greying | X | ||||
| Nail dystrophy | X | ||||
| Pulmonary | X | ||||
| Cardiac | X | X | X | X | |
| GI | X | X | X | ||
| Liver | X | X | X | ||
| GU | X | X | X | ||
| Endocrinopathies | X | X | X | ||
| Hypogonadism | X | X | |||
| Skeletal | X | X | X | ||
| Thumb/radial | X | X | |||
| Osteopenia | X | X | X | X | |
| Neurology | X | X | X | X | X |
| Immunology | X | X | |||
| Associated Malignancies | |||||
| Leukemia (usually AML) | X | X | X | X | X |
| Lymphoma | X | ||||
| Squamous cell carcinomas: | |||||
| Head and neck | X | X | |||
| GI tract | X | X | |||
| Female genital tract | X | X | |||
| Adenocarcinomas: | |||||
| GI tract/anorectal | X | X | |||
| Lung | X | ||||
| Skin | X | ||||
| Liver | X | X | |||
| Brain | X | ||||
| Wilm’s | X | ||||
| Osteosarcoma | X | ||||
| Soft Tissue Sarcomas | X | ||||