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]

• 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]

• Weight Gain

  Growth failure with poor weight and height gain. Bone marrow failure, which may cause patients to have a decrease in any or all types of blood cells. [chop.edu]

  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]

  His stools were noted to be fatty, loose and offensive, and his weight gain had not significantly improved. [dx.doi.org]

  Although weight gain is noted, growth does not seem to improve. Some older patients are able to discontinue enzyme replacement with no clinical consequences. [dashforacure.org]

  This usually becomes obvious within a few days or weeks of birth, as growth and weight gain is lower than expected due to the lack of nutrients being taken in by the body. This may be referred to as ‘failure to thrive’. [gosh.nhs.uk]

• Falling

  At the age of 5 years, the patient began to experience pain in the lower limbs, laxity of joints, lameness and frequent falls. [scielo.br]

  Serum liver enzymes are elevated in 50 to 75% of cases, again most often in young children and tending to fall with age. Chronic liver disease has been reported. [dashforacure.org]

  Unexplained progressively falling or rising blood counts warrant bone marrow evaluation. There are no data to guide recommendations regarding the frequency of bone marrow evaluations. [cancertherapyadvisor.com]

  However, these IQ scores fall within a range so individual children may have IQ scores lower than the average or higher than the average. [gosh.nhs.uk]

• 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]

• 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]

• Eczema

  Patients with Shwachman-Diamond syndrome may present with features of pancreatic insufficiency (e.g. diarrhea, weight loss) or other physical manifestations, e.g. short stature, and dry skin (eczema). [radiopaedia.org]

  Other features include cutaneous (e.g. eczema or ichthyosis) and dental anomalies, and psychomotor retardation. Mild or severe intellectual disability (50% of patients) causes learning difficulties. [orpha.net]

  The most important of these causes are technical failure and operator error, eczema and other skin conditions where it is often difficult to obtain enough sweat, and underlying blood electrolyte abnormalities which may cause misleading results. [dx.doi.org]

• Skin Lesion

  A nutrition work-up showed a decrease in liposoluble vitamins, and suggested a causative link with the skin lesions. [ncbi.nlm.nih.gov]

  These conditions include genetic, congenital, and other disorders that may result in poor weight gain, bone fracture, or skin lesions that appear to be bruises or burns. [the-medical-dictionary.com]

  Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings). Arch Dermatol. 1991; 127(2): 225–230. Rosendahl J, Teich N, Mossner J, et al. [journals.viamedica.pl]

  After several months the eczema-like skin lesions resolved spontaneously, as more often observed in the patients with SDS mentioned here, and her stools became so compact that the girl was constipated for several weeks. [bloodjournal.org]

  Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings). Arch Dermatol. 1991;127(2):225–30. Article CAS PubMed Google Scholar Wejnarska K. [ijponline.biomedcentral.com]

• Skin Disease

  Skin diseases that may mimic child abuse. Br J Dermatol 1990; 123:129. [7.] Carty H. Brittle or battered. Arch Dis Child 1988; 63:350-2. [8.] Pope FM, Narcisi P, Nicholls AC, Liberman M, Oorthuys JW. [the-medical-dictionary.com]

• Erythema

  […] disease バッテン病 Frederick Eustace Batten（1865-1918） English neurologist and pediatrician Battle バトル バットル Battle's sign バトル徴候 William HenryBattle （1856-1936） English surgeon Bauhin バウヒン Bauhin's valve バウヒン弁 Bayes ベイズ Bayes theorem ベイズの定理 Bazin バザン Bazin's erythema [jams.med.or.jp]

• 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]

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]

• Thrombocytopenia

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

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

  Shwachman syndrome A condition characterized by pancreatic atrophy, neutropenia, growth failure, metaphyseal defects, hepatitis, anemia, thrombocytopenia, myocardial lesions–myofiber fragmentation, round cell inflammation, and fibrosis Shwachman, Harry [medical-dictionary.thefreedictionary.com]

  Hematologic features (intermittent neutropenia, anemia and thrombocytopenia), respiratory infection during the first years of life, and skeletal abnormalities were also frequently observed. [doi.org]

• 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]

• Staphylococcus Aureus

  Particular pathogens which SDS patients are susceptible to include Staphylococcus aureus, Haemophilus influenzae and Gram-negative pathogens including Pseudo-monas species. [dx.doi.org]

  Granulocyte colony stimulating factor (G-CSF) may be prescribed and patients would probably benefit during acute infections. (2) The most likely bacterial pathogens in SDS are Staphylococcus Aureus, Haemophilus influenzae and Pseudomonas species. (22) [signavitae.com]

  Similar findings were made for phagocytosis and killing of Staphylococcus aureus or Escherichia coli (data not shown). [bloodjournal.org]

• Lymphadenopathy

  P = pancreas, J = jejunum Variations of Pancreatic Contours The head and neck portions of the pancreas may have lobulated contours, especially in the lateral aspect, mimicking a pancreatic tumor, peripancreatic metastatic tumor deposit or lymphadenopathy [ncbi.nlm.nih.gov]

  She had no evidence of hepatosplenomegaly or lymphadenopathy. A bone marrow aspirate and trephine showed normal cellularity with trilineage dysplasia and no fibrosis. [bmcpediatr.biomedcentral.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]