How is Shwachman-Diamond syndrome 2 inherited?

Shwachman-Diamond syndrome 2 follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How is Shwachman-Diamond syndrome 2 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Shwachman-Diamond syndrome 2?

Information about treatment is currently limited for this condition.

What complications can arise from Shwachman-Diamond syndrome 2?

Shwachman-Diamond syndrome 2 can lead to complications related to the pancreas and blood cell production. People may have trouble digesting food due to exocrine pancreatic dysfunction, which can cause nutritional issues. Additionally, hematopoietic abnormalities can affect blood cell counts, leading to increased risk of infections or other health problems.

How does Shwachman-Diamond syndrome 2 affect daily life?

Living with Shwachman-Diamond syndrome 2 can mean managing digestive issues and potential growth challenges. Individuals may need to follow a special diet to help with digestion and may require regular check-ups to monitor their growth and blood health. Support from healthcare providers can help families navigate these daily challenges.

What is the life expectancy for someone with Shwachman-Diamond syndrome 2?

Information about the life expectancy for individuals with Shwachman-Diamond syndrome 2 is currently limited. Because it is a rare condition, there isn't a lot of specific data available. However, with proper management of symptoms and regular medical care, many people can lead fulfilling lives.

What specific symptoms should I watch for in my child with Shwachman-Diamond syndrome 2?

In children with Shwachman-Diamond syndrome 2, it's important to watch for symptoms like difficulty digesting food, which can lead to poor growth or weight gain. You should also look for signs of low blood cell counts, such as frequent infections or unusual bruising. Regular check-ups can help monitor these symptoms.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

Shwachman-Diamond syndrome 2 (SDS2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Shwachman-Diamond syndrome 2

MONDO:0044205

Also known as:SDS2

Overview

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400).

GeneticsAutosomal recessive · EFL1 (chr 15)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Prolonged prothrombin time, Hyperechogenic pancreas, Prolonged partial thromboplastin time, and Metaphyseal irregularity and others; and very common findings: Low muscle tone (hypotonia), Failure to thrive, Diarrhea, and Normocytic anemia. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Recurrent infections, Low platelet count (thrombocytopenia), Decreased total neutrophil count

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EFL1 encodes elongation factor like GTPase 1 (1,120 aa). GTPase involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Highest expression in Cells EBV-transformed lymphocytes (18.3 TPM) and Testis (18.2 TPM).

Shwachman-Diamond syndrome 2 is associated with mutations in the EFL1 gene on chromosome 15.

EFL1 is classified as a druggable target (Druggable Genome category) with score 0.0.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Shwachman-Diamond syndrome (SDS) have been published.

Suggestive Findings

SDS should be suspected in individuals with any combination of the following clinical findings .

Exocrine pancreatic dysfunction

Low serum concentrations of the pancreatic enzymes trypsinogen and/or isoamylase for age. Note: Measurement of trypsinogen concentration should be used in children age 3 years, and measurement of isoamylase concentration should be used in children age 3 years .

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Shwachman-Diamond syndrome 2. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Clinical practice guidelines for Shwachman-Diamond syndrome (SDS) have been published . Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with SDS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Shwachman-Diamond Syndrome: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations – given the intermittent nature of some features of SDS and the evolution of the phenotype over time – the evaluations in are recommended [, , , ]. Table 6. Shwachman-Diamond Syndrome: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Shwachman-Diamond syndrome 2.

25 publications have been identified in PubMed for Shwachman-Diamond syndrome 2. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (16%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	12	48%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617941

GARD

Genetic and Rare Diseases Info Center

GARD:16272

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Shwachman-Diamond syndrome 2

Shwachman-Diamond syndrome 2 (SDS2) is a rare condition that affects several body systems. It is mainly characterized by difficulties with the pancreas, which is important for digestion, as well as abnormalities in blood cell production. This condition can also lead to shorter stature and changes in the bones, particularly a type of skeletal change known as metaphyseal dysplasia. The condition has been linked to changes in the EFL1 gene. Although SDS2 shares some overlapping features with other conditions in the Shwachman-Diamond syndrome spectrum, it is recognized as a distinct genetic disorder. This summary is based on information provided from trusted sources such as research articles and genetics databases.

People with this condition often experience exocrine pancreatic dysfunction, which means the pancreas does not release enough enzymes needed for proper digestion. They may also have hematopoietic abnormalities, leading to issues with blood cell production. In addition, short stature and skeletal changes, particularly metaphyseal dysplasia, are common features of SDS2.

Shwachman-Diamond syndrome 2 is linked to changes in the EFL1 gene. This genetic change affects how cells function, which may contribute to the range of symptoms observed. The exact mechanism by which the gene change leads to the various symptoms is still being studied, and SDS2 is recognized as part of a group of related conditions with genetic diversity. Associated genes include EFL1.

← Back to All Diseases

GeneReviews

Differential Diagnosis

Features of Shwachman-Diamond syndrome (SDS) (e.g., poor growth and transient neutropenia) may have multiple causes in young children . Table 3. Genes of Interest in the Differential Diagnosis of Shwachman-Diamond Syndrome

Gene(s)	Disorder	MOI1	Clinical Features of Disorder
Cystic fibrosis	AR	Often presents w/both upper-respiratory infections exocrine pancreatic dysfunction	sweat chloride values; No primary bone marrow failure 16 genes incl:1DKC1RTEL1TERCTERTTINF2
Dyskeratosis congenita	XLADAR2	Bone marrow failure	Abnormally shortened telomere length; Variable cellularity of bone marrow w/ precursors; No primary exocrine pancreatic dysfunction
ELANE	ELANE-related neutropenia (incl congenital neutropenia cyclic neutropenia)	AD	Neutropenia
Fanconi anemia	ARADXL3	Bone marrow failure	Progressive pancytopenia w/positive chromosome breakage studies; Variable cellularity of bone marrow w/ precursors; No primary exocrine pancreatic dysfunction
HAX1	Kostmann congenital neutropenia (OMIM 610738)	AR	Neutropenia
mtDNA deletion	Pearson syndrome (See Mitochondrial DNA Deletion Syndromes.)	mt	Exocrine pancreatic dysfunction bone marrow dysfunction
Diamond-Blackfan anemia	ADXL4	Bone marrow failure	Progressive macrocytic anemia w/reticulocytopenia; Normal cellularity bone marrow w/markedly or absent erythroid precursors; No primary exocrine pancreatic dysfunction RMRP
Cartilage-hair hypoplasia	AR	Skeletal dysplasia	Short at birth, w/abnormal long-bone growth; incidence of scoliosis, abnormal pubertal growth spurt, global dysfunction of skeletal growth (axial appendicular); Gastrointestinal features due to complications of infection (vs exocrine pancreatic insufficiency in SDS)
SPINK1	SPINK1-related severe infantile isolated exocrine pancreatic insufficiency5	AR	Exocrine pancreatic dysfunction
UBR1	Johanson-Blizzard syndrome (OMIM 243800)	AR	Exocrine pancreatic dysfunction

Source: GeneReviews — "Shwachman-Diamond Syndrome"

System/Concern	Evaluation	Comment
Skeletal manifestations	Skeletal survey w/radiographs of hips lower limbs	Other radiographs as needed Bone densitometry
Liver disease	Measurement of serum aminotransferase concentrations	—
Developmental delay/ Neurobehavioral manifestations	Assessment of developmental milestones w/neuropsychological eval	Endocrine manifestations
Genetic counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of SDS to facilitate medical personal decision making Family support
resources	By clinicians, wider care team, family support organizations	Assessment of family social structure to determine need for:; Community or such as Parent to Parent; Social work involvement for parental support; Home nursing referral CBC = complete blood count; MOI = mode of inheritance; SDS = Shwachman-Diamond syndrome 1.
Shwachman-Diamond Syndrome: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Exocrine pancreatic insufficiency	Oral pancreatic enzymes	Dose based on assessment of pancreatic function nutritional status Supplementation w/fat-soluble vitamins (A, D, E, K)
Hematologic abnormalities	Blood /or platelet transfusions as needed for anemia thrombocytopenia	Prophylactic antibiotics G-CSF can be considered w/caution may be helpful when interventions such as complex dental procedures or orthopedic surgery are being considered .

Kisho

Shwachman-Diamond syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Neuropsychological and Educational Outcomes in Shwachman-Diamond Syndrome-A Report From the North American Shwachman-Diamond Syndrome Registry.

Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.

Shwachman-Diamond syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Shwachman-Diamond syndrome 2?

What are the symptoms of Shwachman-Diamond syndrome 2?

What causes Shwachman-Diamond syndrome 2?

How is Shwachman-Diamond syndrome 2 inherited?

How is Shwachman-Diamond syndrome 2 diagnosed?

Are there treatments for Shwachman-Diamond syndrome 2?

What complications can arise from Shwachman-Diamond syndrome 2?

How does Shwachman-Diamond syndrome 2 affect daily life?

What is the life expectancy for someone with Shwachman-Diamond syndrome 2?

What specific symptoms should I watch for in my child with Shwachman-Diamond syndrome 2?

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Neuropsychological and Educational Outcomes in Shwachman-Diamond Syndrome-A Report From the North American Shwachman-Diamond Syndrome Registry.

Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.