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]

• 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]

• Chest Deformity

  On review three weeks later he was found to be chesty and wheezy, but with no chest deformity. He was pale and thin. His stools were noted to be fatty, loose and offensive, and his weight gain had not significantly improved. [dx.doi.org]

  He had severe chest deformity (babygram shown in Figure 1 ) and died of respiratory distress at four hours of age. A diagnosis of probable ATD was made although no genetic testing could be performed, as causative genes were unknown at that time. [bmcpediatr.biomedcentral.com]

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]

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]