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3-M syndrome

MeSH: C535314ORPHA: 2616

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with 3-M syndrome, sourced from HPO and Orphanet clinical annotations.

Everted lower lip vermilionTriangular faceBroad foreheadBulbous noseAnteverted naresShort neckThick eyebrowAbnormal metaphysis morphologyIntrauterine growth retardationRocker bottom footFrontal bossingDelayed skeletal maturationSlender long boneHypoplastic pubic boneHypoplastic ischiaScapular wingingShort statureIncreased vertebral heightHypoplastic pelvisMidface retrusionDolichocephalyPointed chinLong philtrumProtruding earAbnormal dental enamel morphologyDelayed eruption of teethThin ribsHorizontal ribsMicromeliaHypoplasia of the ulnaHyperlordosisAbnormality of the elbowShort thoraxEnlarged thoraxHypospadiasDecreased fertilityCongenital hip dislocationScoliosisKyphosisClinodactyly of the 5th fingerAbnormal cerebral vascular morphologyJoint hypermobility

Classification & Codes

MeSH Code

C535314

Orphanet Code

ORPHA:2616
3-M syndrome
MeSHC535314
OrphanetORPHA:2616
Treatments0 drug(s)
Symptoms on record42 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO