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axial mesodermal dysplasia

Tuesday 8 March 2005

Definition: Group of polymalformative syndromes associating widespread anomalies in the cranial and caudal regions. It causes agenesis of the lower vertebral column with defects in the upper body.


- oculoauriculovertebral syndrome

  • hemifacial microsomia
  • preauricular appendages
  • anomalies of the middle ear ossicles and muscles
  • microtia
  • atresia of the external auditory canals
  • thoracic and lumbar hemivertebrae
  • costal malformations (anomalies of the ribs)
  • dextrocardia

- caudal regression sequence

  • sacral dysplasia
  • dislocated hips
  • bilateral talipes equinovarus
  • imperforate anus
  • recto-vesical fistula
  • malformed scrotum
  • undescended testes


- possible autosomal recessive inheritance (10649806)
- diabetic mother (8775416)

Physiopathology hypothesis

- generalized alteration in mesodermal cell migration during the primitive streak period > axial mesodermal dysplasia spectrum (Russell et al., 1981)

See also

- VACTERL association (VATER association) (12910495)
- caudal regression syndrome (CRS) (caudal dysplasia)


- Merchant SN, Naimi TS, Khan A, Nadol JB Jr, Holmes LB. Axial mesodermal dysplasia sequence: autopsy findings. Clin Dysmorphol. 2004 Jan;13(1):21-4. PMID: 15127759

- Stewart FJ, Nevin NC, Brown S. Axial mesodermal dysplasia spectrum. Am J Med Genet. 1993 Feb 15;45(4):426-9. PMID: 8465843