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3-M syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

3-M syndrome

MONDO:0007477

Also known as:Dolichospondylic dysplasiaLe Merrer syndromeMiller-McKusick-Malvaux syndrome

Overview

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

OnsetCONGENITAL

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.

No HPO annotations are available for this condition.

Age of onset: at birth.

GeneReviews

Clinical Guidance

Neonatal period. Some children with 3-M syndrome present in the neonatal period with feeding difficulties requiring early feeding support . A small proportion of infants suffer from significant respiratory distress and/or recurrent respiratory tract infections in early life that can be life threatening . This is more common in the Yakut population, in which 41% of affected infants had asphyxia and respiratory distress at birth and 25.6% required mechanical ventilation . Growth deficiency. The most striking feature of 3-M syndrome is severe intrauterine growth restriction. Birth length is 40-42 cm, whereas the head size is normal for gestational age.

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 3-M syndrome have been published.

Suggestive Findings

3-M syndrome should be suspected in a proband with a combination of the following clinical, radiographic, and family history features.

Clinical features

Source: GeneReviews — "3-M Syndrome"

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 3-M syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for 3-M syndrome have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with 3-M syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

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, the evaluations summarized in are recommended.

Table 5.

3-M Syndrome: Recommended Surveillance

System/Concern | Evaluation | Frequency

Growth deficiency

| Monitor growth on standard growth charts w/special attention to growth velocity. | Every 6-12 mos

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 3-M syndrome.

12 publications have been identified in PubMed for 3-M syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	6	50%

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 9:26 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2616

GARD

Genetic and Rare Diseases Info Center

GARD:5667

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Differential Diagnosis

Intrauterine growth restriction is a nonspecific finding that occurs in approximately 0.17% of all live-born children. 3-M syndrome must be distinguished from other genetic and acquired intrauterine growth restriction-malformation syndromes. Table 2. Disorders of Known Genetic Cause to Consider in the Differential Diagnosis of 3-M Syndrome

Gene(s)	Disorder	MOI	Clinical Features of Disorder
Overlapping w/3-M syndrome	Distinguishing from 3-M syndrome Genetically heterogeneous1	Silver-Russell syndrome (SRS)	See footnote 2.
TRIM37	Mulibrey nanism (OMIM 253250)	AR	IUGR
IGF1R	IGF1R deficiency (OMIM 270450)	ARAD	IUGR postnatal growth deficiency

Source: GeneReviews — "3-M Syndrome"

Kisho

3-M syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Growth deficiency

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Musculoskeletal

Endocrine

Genetic counseling

Therapies Under Investigation

Clinical Trials

Musculoskeletal

Cardiac

Recent Publications

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA

3-M syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Growth deficiency

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Musculoskeletal

Endocrine

Genetic counseling

Therapies Under Investigation

Clinical Trials

Musculoskeletal

Cardiac

Recent Publications

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA