Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

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Synonyms: MYSM1 deficiency

A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia leukopenia mild thrombopenia and myelodysplastic features as well as non-hematologic manifestations such as developmental delay cataracts facial dysmorphism short stature and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema cardiac anomalies hearing loss and reduction of cerebral volume on brain imaging.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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