Table 1 Salient features of various ribosomopathies
From: Alterations in the ribosomal machinery in cancer and hematologic disorders
SYNDROME | GENE INVOLVED | CLINICAL FEATURES | LABORATORY FEATURES |
|---|---|---|---|
DIAMOND BLACK- FAN ANEMIA | RPS 19 (25%); RPS 24; RPS 17; RPL35A; RPL5; RPL11; RPS 10; RPS 26 | Craniofacial defects; pallor; short stature; thumb abnormalities | Macrocytic anemia; elevated HbF levels; elevated ADA; parvovirus B19 seropositivity (50% by age 15) |
SHWACHMAN DIAMOND SYNDROME | SBDS 7q11. 21 (90%) | Recurrent infections; pancreatic insufficiency; short stature; increased risk of malignancy (AML, MDS); increased risk of CVID | Neutropenia; thrombocytopenia; aplastic anemia; neutrophil chemotaxis defect; low immunoglobulins; low B cells |
CARTILAGE HAIR HYPOPLASIA | RMRP (RNase Mitochondroal RNA processing) gene | Short limbed dwarfism; metaphyseal chondrodysplasia; hypoplastic hair; recurrent infectiions (Pneumocystis, CMV) | Neutropenia; lymphopenia; hypogammaglobulinemia; defective B cells; reduced T cell count |
TREACHER COLLINS SYNDROME | TREACLE GENE (TCOF1 mutations) | Craniofacial abnormalities (micrognathia, ear deformities, macrostomia, hearing loss, anti-mongoloid slant) | Anemia; T cell abnormalities; hypogammaglobulinemia |
DYSKERATOSIS CONGENITA | DKC1 at chr.X q28 | Nail dystrophy; reticulated skin pigmentation; oral leukoplakia; infections; liver, lung fibrosis | Reduced telomere length; low IgM and B cell count |
5q- SYNDROME | RPS14 | Pallor; progression to AML (10%) | Macrocytic anemia |
TURNER SYNDROME | HAPLOINSUFFICIENCY OF RPS4X HYPOTHESIS | Short stature; webbed neck; gonadal dysgenesis; mental retardation; CVS malformations | 45XO karyotype; hypogammaglobulinemia; low T cell count; CVID |