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Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Disease definition
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.
ORPHA:508542
Classification level: Disorder- Synonym(s):
- MYSM1 deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Neonatal
- ICD-10: -
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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