3-M syndrome
Findings
No curated finding names 3-M syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007477), read 2026-09-29. CC BY 4.0.
Features
42 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Broad foreheadHPOHP:0000337
- Very frequent (80% to 99% of cases)
- Bulbous noseHPOHP:0000414
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- Hypoplastic ischiaHPOHP:0003175
- Very frequent (80% to 99% of cases)
- Hypoplastic pelvisHPOHP:0008839
- Very frequent (80% to 99% of cases)
- Hypoplastic pubic boneHPOHP:0003173
- Very frequent (80% to 99% of cases)
- Increased vertebral heightHPOHP:0004570
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
Show the remaining 30
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Rocker bottom footHPOHP:0001838
- Very frequent (80% to 99% of cases)
- Scapular wingingHPOHP:0003691
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Slender long boneHPOHP:0003100
- Very frequent (80% to 99% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: 3-M syndrome
- Also called
- Three M Syndrome