Table I.
Syndromes with clinical characteristics common to FA.
| Diagnosis | Type of inheritance | Genes | Clinical factors common with Fanconi Anemia | Clinical factors not common to FA | (Refs.) |
|---|---|---|---|---|---|
| Diamond-Blackfan anemia | AD | RPS7, RPS17, RPS19, RPS24, RPL5, RPL11, RPL35Aa | 1. Congenital aregenerative anemia, generally macrocytic with erythroblastopenia. 2. Short stature, Pierre-Robin sequence, urogenital, and thumb abnormalities. 3. Leukemia and increased risk of cancer. 4. Early age of diagnosis. | Pure red cell aplasia | (54) |
| Shwachman-diamond syndrome | AR | SBDS, EFL1 | 1. Hematological disorder: Thrombocytopenia and anemia, increased fetal hemoglobin. Some cases progress to bone marrow aplasia. 2. Presents as ichthyosis, bone abnormalities, such as metaphyseal dysostosis, and delayed motor neurodevelopment. | Pancreatic lipomatosis, exocrine pancreatic insufficiency | (9) |
| Evans Syndrome (immune pancytopenia) | - | - | 1. Chronic hematological disorder, characterized by autoimmune hemolytic anemia, immune thrombocytopenic purpura, occasionally autoimmune neutropenia. 2. Manifests itself in childhood or adulthood. | Autoimmune disorder. Hemolytic anemia and thrombocytopenia of immunological origin | (9,55) |
| Thrombocytopenia-absent radius syndrome | AR | RBM8A | 1. Bilateral absence of radius, thrombocytopenia, cardiac malformations. 2. Patients may present abnormalities in the ulna, humerus, phocomelia, and the lower extremities. | Thumbs are always present | (56) |
| VACTERL association | - | - | Association of congenital malformations and at least three of the following: vertebral defect, anal atresia, heart defects, tracheoesophageal fistula, renal anomalies and anomalies in the extremities. | It does not present with microcephaly, or hematological affection | (57) |
| Baller-Gerold syndrome | AR | RECQL4 | 1. Association of coronal craniosynostosis, facial and radial axis anomalies, such as oligodactyly, aplasia, or hypoplasia of the thumb or radius. 2. Risk of cancer, predominantly osteosarcoma. | Craniosynostosis, with the coronal suture being the most commonly affected region. | (58) |
aRibosomal proteins. AD, autosomal dominant; AR, autosomal recessive; FA, Fanconi anemia.