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bone marrow failure syndrome 3 (BMFS3) - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Blood and immune system	8	Recurrent infections, Low red blood cell count (anemia), Persistence of hemoglobin F
Skin	4	Eczematoid dermatitis, Nail dystrophy, Thickened, rough skin (hyperkeratosis)
Growth and development	3	Short stature, Failure to thrive, Intrauterine growth retardation
Bones and joints	3	Bone marrow hypocellularity, Joint hypermobility, Low bone density (reduced bone mineral density)
Digestive system	3	Feeding difficulties, Exocrine pancreatic insufficiency, Pancreatic steatosis
Eyes	2	Retinal dystrophy, Retinal dysplasia
Pregnancy and birth	1	Congenital hip dislocation
Ears	1	Hearing loss (hearing impairment)
Head and neck	1	Microcephaly
Brain and nerves	1	Global developmental delay

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 .
Low levels of fecal elastase
Evidence of pancreatic lipomatosis on imaging. Note: Pancreatic imaging can be normal early in the disease .
Abnormal fecal fat balance study of a 72-hour stool collection (with exclusion of intestinal mucosal disease or cholestatic liver disease)

Source: GeneReviews — "Shwachman-Diamond Syndrome"

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

Genetic testing for DNAJC21 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for bone marrow failure syndrome 3 has been reported in the published literature.

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 bone marrow failure syndrome 3. 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

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

Source: GeneReviews — "Shwachman-Diamond Syndrome"

GeneReviews

Clinical Guidance

Prolonged use of cytokine and hematopoietic growth factors such as granulocyte-colony stimulation factor is cautioned against in view of their potential contribution to leukemic transformation . Some drugs (e.g., cyclophosphamide and busulfan) used in standard hematopoietic stem cell transplantation (HSCT) preparative regimens may not be suitable because of possible cardiac toxicity [, , , ].

Source: GeneReviews — "Shwachman-Diamond Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Shwachman-Diamond Syndrome"

Clinical Trials

View trials for bone marrow failure syndrome 3

Explore Trials

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

System/Concern	Evaluation	Frequency
Hematologic abnormalities	CBC w/white blood cell differential platelet count	At least every 3-6 mos; More frequently if peripheral blood counts are changing or infections are recurrent debilitating Bone marrow exam
Skeletal manifestations	Monitor for orthopedic complications.	During the most rapid growth stages Radiographs of hips knees
Liver disease	Assessment of serum aminotransferase levels	At least annually
Developmental delay/ Neurobehavioral manifestations	Developmental assessment	Every 6 mos from birth to age 6 yrs Neuropsychological screening
Skin	Clinical exam for skin manifestations	At each visit Dental/oral health

Source: GeneReviews — "Shwachman-Diamond Syndrome"

Phenotype severity distribution: 5 always present features, 1 very common feature, 9 common features.

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 bone marrow failure syndrome 3.

204 publications have been identified in PubMed for bone marrow failure syndrome 3. Research spans Epidemiology / Natural History (23%), Clinical Trial Publication (21%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Disease patterns and progression	40	23%
Clinical study results	36	21%
Laboratory research	32	19%
Research summaries	30	17%
Patient case studies	14	8%
Testing and diagnosis research	11	6%
New treatment approaches	7	4%
Other research	2	1%

Recent Publications

Beckman RA (2026). [PMID: 41814545](https://pubmed.ncbi.nlm.nih.gov/41814545/). *Stem Cells Transl Med*. [Review / Meta-Analysis]
van Bergen T (2026). [PMID: 41056520](https://pubmed.ncbi.nlm.nih.gov/41056520/). *Blood Adv*. [Basic Science / Preclinical]
Cao Q (2026). [PMID: 41945727](https://pubmed.ncbi.nlm.nih.gov/41945727/). *Clin Lab*. [Clinical Trial Publication]
Modi D (2026). [PMID: 41052403](https://pubmed.ncbi.nlm.nih.gov/41052403/). *Blood Adv*. [Clinical Trial Publication]
Liu Q (2026). [PMID: 41296017](https://pubmed.ncbi.nlm.nih.gov/41296017/). *Blood Adv*. [Epidemiology / Natural History]
Abacar K (2026). [PMID: 40693392](https://pubmed.ncbi.nlm.nih.gov/40693392/). *Arthritis Rheumatol*. [Clinical Trial Publication]
Souza-Neto F (2026). [PMID: 42018138](https://pubmed.ncbi.nlm.nih.gov/42018138/). *JACC Basic Transl Sci*. [Basic Science / Preclinical]
Hakkarainen M (2026). [PMID: 41628318](https://pubmed.ncbi.nlm.nih.gov/41628318/). *Blood Adv*. [Clinical Trial Publication]
Lecornec N (2026). [PMID: 41498485](https://pubmed.ncbi.nlm.nih.gov/41498485/). *Am J Hematol*. [Epidemiology / Natural History]
Franke M (2026). [PMID: 41035407](https://pubmed.ncbi.nlm.nih.gov/41035407/). *Haematologica*. [Review / Meta-Analysis]

Kisho

bone marrow failure syndrome 3

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

bone marrow failure syndrome 3

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team