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ORPHA:2616Malformation syndrome
Also called 3-M syndrome · Yakut short stature syndrome
What it is
A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.
Key facts
- Age of onset
- Antenatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
20- Abnormal metaphysis morphology
- Anteverted nares
- Broad forehead
- Bulbous nose
- Delayed skeletal maturation
- Everted lower lip vermilion
- Frontal bossing
- Hypoplastic ischia
- Hypoplastic pelvis
- Hypoplastic pubic bone
- Increased vertebral height
- Intrauterine growth retardation
- Midface retrusion
- Rocker bottom foot
- Scapular winging
- Short neck
- Short stature
- Slender long bone
- Thick eyebrow
- Triangular face
Common30–79%
15These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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