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]

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]

Anemia (low red blood cell counts) and thrombocytopenia (low platelet counts) may also occur. [en.wikipedia.org]

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]

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

Growth retardation: More than 50% of patients are below the third percentile for height, and short stature appears to be unrelated to nutritional status. [en.wikipedia.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]

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. [ghr.nlm.nih.gov]

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]

Thus, patients typically present in early infancy with malabsorption, steatorrhea, failure to thrive, and deficiencies of fat-soluble vitamins A, D, E, and K. [3, 4] Symptoms of malnutrition typically develop when more than 98% of pancreatic reserve is [emedicine.medscape.com]

Although initially relating the beginning of her infections to mold exposure over the previous four years, the patient had experienced frequent respiratory tract infections since childhood, including recurrent otitis media, mastoiditis, and two episodes [journals.plos.org]

Affected individuals with neutropenia may also have additional abnormalities believed to result from an increased susceptibility to infections. [rarediseases.org]

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

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]

Early symptoms may include failure to thrive, feeding problems, and recurrent bacterial infections. Growth often remains below normal. Patients with Shwachman Diamond Syndrome have an increased risk of developing Leukemia. [butterflyguild.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]

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]

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]

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

126:1157 ) Clinical features and diagnosis Additional clinical findings: intellectual disability, facial dysmorphism, dental anomalies, ichthyosis, thoracic deformities Often presents with infections at birth due to neutropenia, also malabsorption (steatorrhea [pathologyoutlines.com]

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]

Morphologic findings were slight, regular acanthosis and severe diffuse hyperkeratosis with variable parakeratosis. The granular layer was thickened. The papillary dermis showed very slight perivascular lymphocyte infiltration. [ncbi.nlm.nih.gov]

A 12-year-old boy with Shwachman syndrome had cutaneous involvement characterized by dry skin, perioral dermatitis, and follicular keratosis. Polymorphonuclear motility was decreased. [ncbi.nlm.nih.gov]

Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman-Diamond syndrome (SDS) whereas the associated skeletal dysplasia is variable and not consistently observed. [ncbi.nlm.nih.gov]

Cole, Skeletal Dysplasias, Genetics of Bone Biology and Skeletal Disease, 10.1016/B978-0-12-387829-8.00021-4, (325-336), (2013). [doi.org]

If clear diagnosis is not possible in the neonatal period we would advise referral to a specialist skeletal dysplasia service. [bmcpediatr.biomedcentral.com]

Pathophysiology/Complications CF, cystic fibrosis SDS, Shwachman-Diamond syndrome Shwachman-Diamond syndrome (SDS; OMIM 260400) is a rare autosomal recessive disorder characterized by pancreatic insufficiency, bone marrow failure, skeletal dysplasia, [care.diabetesjournals.org]

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]

[…] with Shwachman syndrome (SS), using standard and molecular cytogenetic methods and molecular genetic techniques, showed that (1) the i(7)(q10) is not, or not always, an isochromosome but may arise from a more complex mechanism, retaining part of the short [ncbi.nlm.nih.gov]

The exclusion of the short arm and the centromeric region of chromosome 7 from disease involvement is based on concordant and discordant chromosomal regions in the affected and an unaffected sibling, determined by a recombination event on the maternal [doi.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]

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]

Birth weight is often normal, but more than 50% of patients are still below the 3rd percentile for height when they are one year old. (8) All patients exhibit delayed bone age and delayed puberty. [signavitae.com]