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

Rare Disease

3M syndrome 3

MONDO:0013627

Also known as:3-M syndrome 33-M syndrome caused by mutation in CCDC8CCDC8 3-M syndrome

Overview

Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.

GeneticsAutosomal recessive · CCDC8 (chr 19)

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.

Features include always present findings: Decreased body weight, Short stature, Prominent nasal tip, and Prominent calcaneus and others; and very common findings: Frontal bossing. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	4	Excessive inward curvature of the lower spine (hyperlordosis), Joint hypermobility, Slender long bone

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.

CCDC8 encodes coiled-coil domain containing 8 subunit of 3M complex (538 aa). Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. Highest expression in Ovary (59.0 TPM) and Fallopian Tube (40.2 TPM).

3M syndrome 3 is associated with mutations in the CCDC8 gene on chromosome 19.

The CCDC8 protein participates in AcM-UBE2M transfers NEDD8 to CUL9:RBX1 pathway.

CCDC8 is classified as a druggable target 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 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 3M syndrome 3. 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 3M syndrome 3.

10 publications have been identified in PubMed for 3M syndrome 3. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (30%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Research summaries	4	40%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614205

GARD

Genetic and Rare Diseases Info Center

GARD:15772

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?

← Back to All Diseases

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"

Latest News & Developments

1 recent

View all

AI-curated news mentioning 3M syndrome 3

Updated Aug 25, 2026

Gene & Cell Therapy•

Pipeline & Approvals

•26 days ago(Aug 25)

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor

The FDA approved Genglycos (pariglasgene brecaparvovec-opnr) to reduce daily cornstarch intake in patients aged 8 years and older with glycogen storage disease type Ia. Known as Von Gierke disease, GSDIa is a rare metabolic disorder caused by a mutation in the G6PC gene. This genetic variation leads to a deficiency in glucose-6-phosphatase (G6Pase), an enzyme needed to release glucose into the bloodstream. Without this enzyme, the body cannot properly maintain blood glucose levels, causing severe hypoglycemia and other serious metabolic complications · Pariglasgene brecaparvovec is an adeno-associated virus (AAV) serotype 8 based gene therapy that delivers a functional copy of the G6PC gene into liver cells, enabling the production of normally functioning G6Pase. Ultragenyx stated that as part of its postmarketing commitments to the FDA, the Company will provide 2 years of clinical data from open-label commercial treatment of 50 patients and 20 control patients through its existing GSDIa Disease Monitoring Program. ... Ultragenyx announces US FDA approval of Genglycos™ gene therapy, the first-ever FDA-approved treatment designed to treat the underlying cause of glycogen storage disease type Ia (GSDIa). “The reduced reliance on cornstarch, experienced by patients in our clinical studies, demonstrates this gene therapy’s ability to establish the normal breakdown of glycogen to produce glucose during fasting or episodes of metabolic stress. This ability to regulate glucose has alleviated the disease burden and has the potential to mitigate the risk of severe or life-threatening hypoglycemia for these patients.” Close more info about First Gene Therapy Approved for Glycogen Storage Disease Type la

View all news for 3M syndrome 3

Kisho

3M syndrome 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Growth deficiency

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Musculoskeletal

Endocrine

Genetic counseling

Therapies Under Investigation

Clinical Trials

Musculoskeletal

Cardiac

Recent Publications

Latest News & Developments

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor

3M syndrome 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Growth deficiency

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Musculoskeletal

Endocrine

Genetic counseling

Therapies Under Investigation

Clinical Trials

Musculoskeletal

Cardiac

Recent Publications

Latest News & Developments

First Gene Therapy Approved for Glycogen Storage Disease Type la - Endocrinology Advisor