- ... pathogenic variant (s) in a family are known. Diagnosis Suggestive Findings Shwachman-Diamond syndrome (SDS) should be suspected in individuals with some ...
- ... these changes lead to the major signs and symptoms of Shwachman-Diamond syndrome. Researchers suspect that a shortage of functional SBDS ... Siderius L, Liu JM. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011 Dec;1242: ...
- ... hemoglobinuria (PNH) (OMIM 300818 ) Dyskeratosis congenita Fanconi anemia Shwachman-Diamond syndrome Management Evaluations Following Initial Diagnosis Urgent referral to an oncologist for evaluation of ...
- ... sinusitis, bronchiectasis, bronchitis, pneumonia, constipation, male infertility, pancreatitis symptoms) and Shwachman-Diamond syndrome (e.g., pancreatic insufficiency, short stature, maldigestion, neutropenia, ...
- ... Gene Disorder 1 MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/SMCD Distinguishing from SMCD EFL1 Shwachman-Diamond syndrome 2 (OMIM 617941 ) AR Short stature Metaphyseal widening & ...
- ... Urticaria C18 Nutritional and Metabolic Diseases - Obesity, Maternal - ... Cytokine Release Syndrome - Extranodal Extension - Hepatic Infarction - Locked- ...
- ... Urticaria C18 Nutritional and Metabolic Diseases Obesity, Maternal ... Cytokine Release Syndrome Extranodal Extension Hepatic Infarction Locked- ...
- ... the digestive system Certain genetic disorders , such as Shwachman-Diamond ... has belly pain and other digestive symptoms that don't have a known cause. This ...
- ... chondrodysplasia, Shwachman type</synonym><synonym >SDS</synonym><synonym >Shwachman syndrome</synonym><synonym >Shwachman-Bodian syndrome</synonym><synonym >Shwachman- ...
- ... Shprintzen-Goldberg syndrome SHS, see Sheldon-Hall syndrome Shwachman syndrome, see Shwachman-Diamond syndrome Shwachman-Bodian syndrome, see Shwachman-Diamond syndrome Shwachman- ...
38 results
