Shwachman syndrome

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Neutropenia circulatory 98 % 10393609 2013-08-26
Low serum trypsinogen circulatory 91 % 10393609 2013-08-26
Pancreatic insufficiency digestive 91 % 10393609 2013-08-26
Steatorrhoea digestive 86 % 10393609 2013-08-26
Increased fetal hemoglobin circulatory 80 % 8759887 2013-08-26
Short stature skeletal 71 % 10393609 2013-08-26
Anemia circulatory 66 % 8759887 2013-08-26
Increased blood transaminase digestive 60 % 10393609 2013-08-26
Metaphyseal dysostosis skeletal 46 % 10393609 2013-08-26
Costochondral thickening skeletal 45 % 10393609 2013-08-26
Anemia circulatory 42 % 10393609 2013-08-26
Thrombocytopenia circulatory 34 % 10393609 2013-08-26
Myelodysplastic syndrome circulatory 33 % 8759887 2013-08-26
Narrowed thorax skeletal 32 % 10393609 2013-08-26
Recurrent infections lymphatic 24 % 10393609 2013-08-26
Cancer circulatory 24 % 8759887 2013-08-26
Thrombocytopenia circulatory 24 % 8759887 2013-08-26
Pancytopenia circulatory 19 % 10393609 2013-08-26
Hepatomegaly digestive 15 % 10393609 2013-08-26
Myelodysplastic syndrome circulatory 8 % 10393609 2013-08-26



List of references:


Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar.
H Ginzberg, J Shin, L Ellis, J Morrison, W Ip, Y Dror, M Freedman, L A Heitlinger, M A Belt, M Corey, J M Rommens, P R Durie,

With the use of clinical data from a large international cohort, we evaluated and compared affected siblings and isolated cases.

The Journal of pediatrics - Jul 1999



Haematological abnormalities in Shwachman-Diamond syndrome.
O P Smith, I M Hann, J M Chessells, B R Reeves, P Milla,

We have analysed the haematological parameters in 21 patients with Shwachman-Diamond syndrome (SDS) seen over a 25-year period at our institution. Neutropenia, although present in all patients, was intermittent in two-thirds, constant in the rest and was associated with impaired chemotaxis in all of those patients tested. Fetal haemoglobin (HbF) was elevated in 80% of the patients at some stage, and anaemia and thrombocytopenia was documented in 66% and 24% respectively. Bone marrow samples were taken in over half of the patients. Myelodysplastic syndrome (MDS) developed in seven (33%) patients, five of whom had acquired clonal structural chromosome abnormalities in their bone marrows. In five of the patients with MDS (24%) transformation to acute myeloid leukaemia occurred. Like other constitutional bone marrow failure syndromes. SDS has a predilection to leukaemic transformation hitherto assumed to be in the region of 5-10%. The data presented here suggest that this figure probably represents an underestimate. Shwachman-Diamond syndrome is an interesting model of leukaemia development and greater understanding of the clinical spectrum of this rare disorder should produce further insights into its pathobiology.

British journal of haematology - Aug 1996