Patient #1 presented with pancytopenia without other system involvement, while patient #2 presented with severe neutropenia, anemia, and a bifid thumb. Neither patient had diarrhea or malabsorption. [scholars.northwestern.edu]

Presentation is often in childhood, although it may be at any time in life. Shwachman-Diamond syndrome is the second commonest cause of pancreatic insufficiency in children after cystic fibrosis. [radiopaedia.org]

At diagnosis, growth retardation was present in all patients, and all subjects showed pancreatic insufficiency. [doi.org]

It presents in infancy but its radiographic features are relatively mild. Skeletal manifestations include delayed bone age with marked carpal delay, broad cup-like anterior ribs, metaphyseal irregularities, and coxa vara with short femoral necks. [mirc.rsna.org]

About 1/3 of patients present such complications, and some can be treated successfully by bone marrow transplant. The documents contained in this web site are presented for information purposes only. [orpha.net]

• Anemia

  Blood analysis shows neutropenia (absolute neutrophil count Differential diagnosis Differential diagnoses include cystic fibrosis, Pearson syndrome, Fanconi anemia, Johanson-Blizzard syndrome, Blackfan-Diamond anemia, celiac disease, and autosomal recessive [orpha.net]

  When he was 61/2 years old a severe aplastic anemia occured and he received several blood transfusions. Anemia recovered 6 months later. [journals.lww.com]

  increased HgF levels, thrombocytopenia Low serum isoamylase and trypsinogen Treatment and prognostic factors 25% develop aplastic anemia, 7% develop myelodysplastic syndrome or acute myeloid leukemia Supportive treatment (G-CSF, transfusions, pancreatic [pathologyoutlines.com]

  These patients, however, exhibited many features similar to other constitutional hematologic disease, such as Fanconi's anemia, which are atypical for Shwachman syndrome. [ncbi.nlm.nih.gov]

• Short Stature

  stature, and skeletal changes. [medical-dictionary.thefreedictionary.com]

  stature, bone marrow dysfunction with neutropenia, and metaphyseal chondrodysplasia. [mirc.rsna.org]

  Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities and short stature. [dbpedia.org]

  Lipomatosis of the pancreas found on MR and CT and the clinical findings pancytopenia, short stature, and recurrent infections are typical for Shwachman syndrome. [ncbi.nlm.nih.gov]

• Recurrent Infection

  Recurrent infections are related to neutropenia, chemotactic defect, impaired neutrophil mobility, and impaired complement activation. Patients with Shwachman-Diamond syndrome have an increased incidence of leukemia. [mirc.rsna.org]

  Lipomatosis of the pancreas found on MR and CT and the clinical findings pancytopenia, short stature, and recurrent infections are typical for Shwachman syndrome. [ncbi.nlm.nih.gov]

  The most common anomaly is usually intermittent and moderate neutropenia that is associated with recurrent infections. Mild anemia and thrombocytopenia may also occur. [orpha.net]

  Clinical features include short stature, narrowing of the rib cage due to involvement of the ribs, musculoskeletal anomalies, and recurrent infections. Onset of symptoms in infancy. [whonamedit.com]

• Dysostosis

  The main associated features are usually cyclic neutropenia, metaphyseal dysostosis, and growth retardation. Other organs or functions may be involved in this syndrome, showing a wide range of abnormalities and symptoms. [doi.org]

  A dictionary of medical eponyms Related people Harry Shwachman Louis Klein Diamond Martin Bodian A rare disorder characterized by exocrine pancreatic insufficiency (the pancreas being replaced by adipose tissue), metaphyseal dysostosis, and a congenital [whonamedit.com]

  Other features include metaphysial dysostosis, mild hepatic dysfunction, increased frequency of infections. Shwachman–Diamond syndrome is characterized by an autosomal recessive mode of inheritance. [en.wikipedia.org]

  Short stature Poor weight gain (“Failure to thrive”) Diarrhea Problems with bones (“metaphyseal dysostosis”, a specific finding seen on x-rays). Frequent infections How is SDS diagnosed? Blood tests are performed to document low white cells. [childrensmn.org]

  […] serum trypsinogen in 70-98% and abnormal pancreatic stimulation test in nearly 100%), Growth retardation (shortness 60%, weight 50%, microcephalus Other manifestations include delayed puberty, rib and thoracic bone abnormalities 30-50%, metaphyseal dysostosis [atlasgeneticsoncology.org]

• Malnutrition

  Other rarer causes of pancreatic exocrine insufficiency include severe malnutrition, Pearson syndrome, Johanson-Blizzard syndrome and Jeune syndrome. [dx.doi.org]

  As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition. Pancreatic insufficiency often improves with age in people with Shwachman-Diamond syndrome. [encyclopedia.pub]

  As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition. [malacards.org]

  These results as a whole suggest these growth curves are influenced by the genetic defect rather than malabsorption/malnutrition or inherited factors. [bmjopen.bmj.com]

• Failure to Thrive

  Failure to thrive Failure to thrive may indicate exocrine pancreatic insufficiency (EPI), a condition that occurs when the pancreas fails to provide the necessary amount of digestive enzymes... [rarecare.world]

  Exocrine pancreatic insufficiency results in failure to thrive, growth retardation, and chronic steatorrhea. [orpha.net]

  As a result, they often have fatty, foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to thrive); and experience malnutrition. [malacards.org]

  A likely toxic medullar effect of valproate acid therapy, given since one year for a syndromatic epilepsy, is discussed. 3° a one month baby EM.. . was admitted because of failure to thrive and one inguinal abcess. [journals.lww.com]

  Additional signs and symptoms include: Diarrhea Stools containing an excessive amount of fat, foul smelling and greasy in appearance Failure to thrive (poor weight gain) Frequent infections Bone abnormalities Liver or gastrointestinal (GI) changes Abnormal [chop.edu]

• Steatorrhea

  Pancreatic lipase secretion was assessed in 3 patients with steatorrhea and 5 without steatorrhea (73% of the surviving patients) using a sensitive assay which used maximum stimulation with colipase. [ncbi.nlm.nih.gov]

  Disease Developmental disability Neutropenia Pancreas Insufficiency Skeletal dysplasia Symptom Steatorrhea Steatorrhea may indicate pancreas insufficiency which for example occurs in Shwachman Diamond Syndrome and Cystic Fibrosis. [rarecare.world]

  Exocrine pancreatic insufficiency results in failure to thrive, growth retardation, and chronic steatorrhea. [orpha.net]

  Steatorrhea is noted in the first 6 months of life in about 50% of affected children and increases to 90% by the age of one. (5) Steatorrhea and malabsorption might lead to malnutrition and fat-soluble vitamin deficiency (A, D, E, K). (4) Hematological [signavitae.com]

• Liver Dysfunction

  Additional characteristic findings may include short stature ; abnormal bone development affecting the rib cage and/or bones in the arms and/or legs (metaphyseal dysostosis); recurrent infections; and/or liver dysfunction.[1][2][3] As a result of the [rarediseases.info.nih.gov]

  For children with recurrent liver dysfunction of an unknown etiology and limited growth, it is recommended that genetic testing is performed as early as possible to avoid a delay in treatment and to promptly detect the risk of MDS or acute myeloid leukemia [journals.lww.com]

  The phenotypic spectrum can be broad and variable, but exocrine pancreatic dysfunction and haematological abnormalities are consistent features. 2 Other common manifestations include short stature, skeletal abnormalities and liver dysfunction. [doi.org]

• Dental Caries

  OTHER POSSIBLE COMPLICATIONS Less common features include dental dysplasia and increased dental caries, lung disease, testicular fibrosis, and cardiac lesions. SDS is a very rare condition. [shwachman-diamond.org]

  These may include increased tooth decay (dental caries), mouth ulcers, and/or disease of the tissues that surround and support the teeth (periodontal disease). [rarediseases.org]

• Hair Hypoplasia

  Genetic mutations affecting ribosome biogenesis underlie several inherited bone marrow failure syndromes: Diamond-Blackfan anemia, dyskeratosis congenita, cartilage-hair hypoplasia, and Shwachman-Diamond syndrome. [grantome.com]

  However, unusual and combinations of tissues and organs are also affected in Diamond–Blackfan anemia, X-linked dyskeratosis congenita, and cartilage–hair hypoplasia—three diseases that may also be linked to defective ribosome function. [en.wikipedia.org]

  Differential Diagnosis Cystic fibrosis Pearson syndrome Pancreatic agenesis Johanson-Blizzard syndrome Cartilage-hair hypoplasia Consultations Hematology/oncology Gastroenterology Orthopedic surgery Psychologist Enhancing Healthcare Team Outcomes SDS [statpearls.com]

  Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell. 2001 ; 104 : 195 -203. ↵ Dokal I. Dyskeratosis congenita in all its forms. [doi.org]

• Coxa Vara

  Skeletal manifestations include delayed bone age with marked carpal delay, broad cup-like anterior ribs, metaphyseal irregularities, and coxa vara with short femoral necks. [mirc.rsna.org]

  Michael has upwards of 10 specialists and battles chronic severe neutropenia, osteoporosis, coxa vara of his hips, kidney issues, growth delay, psychosocial issues, developmental delays, pain and high functioning autism. [chla.org]

  Coxa valga was present on the right and some broadening and coxa vara on the left. The ribs were a little shortened. Figure 2 Chest radiograph of UPN1 at referral for BMT aged 11 years. [bmcpediatr.biomedcentral.com]

  vara 0002812 Elevated hepatic transaminase High liver enzymes 0002910 Enlargement of the costochondral junction 0000920 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [rarediseases.info.nih.gov]

  vara deformity Genu and cubitus valgus Tooth enamel defects (dental dysplasia) [9] Along with eczema, dermatologic manifestations in patients with SDS include ichthyosis and petechiae. [emedicine.medscape.com]

• Suggestibility

  These results suggest that the defective neutrophil mobility is a feature of Shwachman syndrome which may contribute to the vulnerability of these patients to frequent infections. [ncbi.nlm.nih.gov]

This activity reviews the clinical presentation, diagnostic workup, management, and potential complications of this disorder and highlights the role of the interprofessional team in caring for affected patients. [statpearls.com]

A discussion of diagnostic workup, medical management, and treatment is presented. Similar articles Hematologically important mutations: Shwachman-Diamond syndrome. Costa E, Santos R. Costa E, et al. [pubmed.ncbi.nlm.nih.gov]

On more extensive workup, the second infant proved to have methylmalonic aciduria and was treated. The mother and family were eventually exonerated. [the-medical-dictionary.com]

This review focuses on the clinical presentation, diagnostic workup, clinical management and treatment of patients with SDS. [ncbi.nlm.nih.gov]

His inital chest X-ray was normal and an aggressive pulmonary workup revealed no evidence of pneumonia. His pulmonary function tests were not significantly different from his pretransplant evaluation. [nature.com]

• Delayed Bone Age

  Skeletal manifestations include delayed bone age with marked carpal delay, broad cup-like anterior ribs, metaphyseal irregularities, and coxa vara with short femoral necks. [mirc.rsna.org]

  Bone involvement is characterized by delayed bone age and maturation with metaphyseal dysplasia resulting in short stature, pectus carinatum, and generalized osteopenia. [orpha.net]

  Delayed bone age was found in 15 patients (84%) and osteopaenia in 12 of 15 patients (80%). Conclusions: Endocrine dysfunctions are common in SDS, especially growth hormone (GH) deficiency. [journals.viamedica.pl]

• Neutropenia

  Recurrent infections are related to neutropenia, chemotactic defect, impaired neutrophil mobility, and impaired complement activation. Patients with Shwachman-Diamond syndrome have an increased incidence of leukemia. [mirc.rsna.org]

  Shwach·man syn·drome ( shwahk'măn ), [MIM*260400] an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency resulting in malabsorption, neutropenia with defect in neutrophile chemotaxis, short stature, and skeletal [medical-dictionary.thefreedictionary.com]

  […] severe congenital neutropenia due to G6PC3 deficiency (see these terms). [orpha.net]

  Check up revealed maldigestion, anemia and neutropenia. At the age of 4 months she had a mild pancytopenia. [journals.lww.com]

• Cytopenia

  Other rare inherited cytopenias (Diamond-Blackfan anaemia [DBA], Shwachman-Diamond syndrome [SDS], amegakaryocytic thrombocytopenia [AMT]) History Exam 1st investigation ... ... [sok.helsebiblioteket.no]

  SBDS Gene Sequencing Disease Shwachman Diamond syndrome (SDS) Description Shwachman Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction, bone abnormalities, hematologic abnormalities including neutropenia or multi-lineage cytopenia [cincinnatichildrens.org]

  Cytopenias may be persistent or intermittent. Additionally, the hematologic abnormalities (i.e., cytopenias, marrow hypocellularity, and marrow dysplasia) may evolve over time even if absent at presentation. [cancertherapyadvisor.com]

  Definition / general Also known as Shwachman-Bodian-Diamond syndrome (SBDS) Rare autosomal recessive childhood stem cell disorder with peripheral cytopenia (particularly neutropenia), ineffective hematopoiesis, variable marrow cellularity; also pancreatic [pathologyoutlines.com]

• Leukopenia

  Neutropenia was the most common hematologic abnormality (88%), but leukopenia, thrombocytopenia, and anemia were also frequently encountered. [ncbi.nlm.nih.gov]

  A complete blood cell count showed leukopenia (leukocytes: 3.1-3.5 x 10 3 /µL), neutropenia (segmented neutrophils: 15-22%), but normal hemoglobin, hematocrit and platelet count. [scielo.br]

  Infections are the feared complication of leukopenia. Prompt treatment with antibiotics is the mainstay of therapy. Granulocyte colony-stimulating factor (G-CSF) can be used to increase the white blood cell (WBC) count. [statpearls.com]

  An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. An inherited condition characterized by aplasia of the erythroid series only. [icd10data.com]

  The most common single-cell reduction is leukopenia, which causes repeated infections by viruses and bacteria, leading to problems such as sinusitis, pneumonia, osteomyelitis, and septicemia. [journals.lww.com]

Short stature is a recognized feature of SDS syndrome; however, systemic data concerning recombinant human growth hormone (rGH) treatment are limited. Aim of the study: To assess the effect of rGH treatment in patients with SDS. [termedia.pl]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Our patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials investigating new treatments. [dana-farber.org]

We watch your child closely and recommend the right treatments at the right time. At Seattle Children’s we offer these treatment options: Most children with SDS have trouble getting enough nutrients from their food. [seattlechildrens.org]

Patients with severe bone marrow involvement may have a guarded prognosis. [ncbi.nlm.nih.gov]

Prognosis Prognosis is variable. Life-threatening complications include bone marrow aplasia and leukemic transformation, and occasionally viral infections. [orpha.net]

MDS and AML in patients with SDS has a poor prognosis, with a survival rate of < 20%. Inborn conditions Rare reports of increase in spontaneous chromosomal breakage. [atlasgeneticsoncology.org]

Etiology SDS is caused in 95% of cases by mutations in the SBDS gene (7q11.22) encoding a ribosomal protein involved in ribosomal biogenesis and other cellular processes. [orpha.net]

A mutation in the Shwachman-Bodian-Diamond syndrome (SBDS) gene on chromosome 7 is found in 90% of the cases.[1][2][3][4] Etiology SDS is caused by an SBDS gene mutation on chromosome 7. [statpearls.com]

Sections Continuing Education Activity Introduction Etiology Epidemiology Pathophysiology History and Physical Evaluation Treatment / Management Differential Diagnosis Consultations Enhancing Healthcare Team Outcomes Review Questions References Similar [pubmed.ncbi.nlm.nih.gov]

Summary Epidemiology Worldwide prevalence is estimated at about 1/350,000 and birth-prevalence at around 1/200,000 live births. Clinical description SDS shows a variable clinical picture, even within families. [orpha.net]

Sections Continuing Education Activity Introduction Etiology Epidemiology Pathophysiology History and Physical Evaluation Treatment / Management Differential Diagnosis Consultations Enhancing Healthcare Team Outcomes Review Questions References Similar [pubmed.ncbi.nlm.nih.gov]

Epidemiology of chronic pancreatitis: burden of the disease and consequences. United European Gastroenterol J. 2014 Oct;2(5):345-54. Available online at https://www.ncbi.nlm.nih.gov/pubmed/25360312. Accessed on 3/19/17. [labtestsonline.it]

Therefore, a younger SDS infant such as our patient is unlikely to develop diabetes through the same pathophysiological changes in the pancreas as those seen in CF-related diabetes. [care.diabetesjournals.org]

Studies to understand the pathophysiology of bone marrow failure are currently underway. [emedicine.com]

Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. Curr Opin Hematol. 2010;18(1):30-5.). [scielo.br]

Shimamura A, Alter BP (2010) Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 24:101–122 PubMedCentral PubMed CrossRef Google Scholar 19. [link.springer.com]

Treatment for children with SDS includes: pancreatic enzyme supplementation, vitamin supplementation and nutrition monitoring prevention and/or treatment of infections correction of low blood counts when possible prevention of orthopedic deformities close [childrensmn.org]

A weekly dose of 2 micrograms/kg/day was able to maintain the absolute neutrophil count high enough (0.58-1.2 x 10(9)/L) to prevent suppurative infections. [ncbi.nlm.nih.gov]

THROMBOCYTOPENIA Blood platelets clot the blood and prevent bruising. A normal platelet count is above 150,000 per microliter. A decreased number of these cells is called thrombocytopenia. [shwachman-diamond.org]

Shimamura determined that SBDS also functions to stabilize the mitotic spindle and prevent genomic instability (Austin et al ., 2008). [fredhutch.org]

Thrombocytopenia, which occurs when the bone marrow does not produce enough platelets necessary to prevent bleeding or bruising. Subtle bone abnormalities have been reported in 10 to 15% of patients. [chop.edu]