Table 1

Clinical manifestations and laboratory findings in inherited bone marrow failure syndrome.

Syndrome	Non-hematological clinical manifestations	Laboratory findings	Molecular mechanisms
Fanconi anemia	Short stature, low birth weight, microcephaly, microphthalmia, hearing loss, triangular face, micrognathia, cardiac anomalies, tracheoesophageal fistula, esophageal atresia, kidney anomalies, hypoplastic thenar eminence, clinodactyly, café-au-lait spots	Pancytopenia, macrocytosis, elevated HbF, increased chromosome breakage in clastogenic assay	DNA repair: FA/BRCA pathway
Dyskeratosis congenita	Mucocutaneous triad (skin pigmentation, nail dysplasia, oral leucoplakia), short stature, low birth weight, failure to thrive, pulmonary fibrosis, stenosis of the esophagus, liver fibrosis	Pancytopenia, macrocytosis, elevated HbF, very short telomeres	Telomere shortening
Diamond-Blackfan anemia	Low birth weight, short stature, developmental delay, anomalies in craniofacial skeleton, eyes, heart, visceral organs and limbs	Anemia, elevated red blood cell adenosine deaminase, macrocytosis, elevated HbF	Ribosome biogenesis and processing
Schwachman-Diamond syndrome	Exocrine pancreatic insufficiency, failure to thrive, malabsorption, short stature, neurodevelopment and skeletal abnormalities	Neutropenia, low serum isoamylase, low serum trypsinogen	Ribosome biogenesis and processing
Severe congenital neutropenia	Recurrent infection	Neutropenia	Myeloid lineage growth arrest
Congenital amegakaryocytic thrombocytopenia	Nonsyndromic (occasionally, growth retardation, cardiac anomalies, psychomotor developmental delay)	Thrombocytopenia, reduced megakaryocytes	Hematopoietic stem cell and megakaryocyte regulation
GATA2 deficiency	Lymphedema, immunodeficiency, atypical mycobacterial infections	Neutropenia, anemia, thrombocytopenia	Zinc finger transcription factor
SAMD9/SAMD9L disorders	MIRAGE (SAMD9): MDS, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy	Transient or permanent cytopenia	Defective antiproliferative function
SAMD9/SAMD9L disorders	Ataxia–pancytopenia syndrome (SAMD9L): cerebellar atrophy and white matter hyperintensities, gait disturbance, nystagmus	Transient or permanent cytopenia	Defective antiproliferative function
MECOM-associated syndromes	Radioulnar synostosis, clinodactyly, hearing loss, cardiac/renal malformation	Thrombocytopenia	Zinc finger transcription factor

Abbreviations: HbF, hemoglobin F; MDS, myelodysplastic syndrome.

Blood Res 2022;57:S49~S54 https://doi.org/10.5045/br.2022.2022012