Axial mesodermal dysplasia spectrum

Synonyms

Russell Weaver Bull syndrome

Overview

A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.

Symptoms

  • Rib abnormalities
  • Dextrocardia
  • Dislocated hips
  • Talipes equinovarus
  • Imperforate anus
  • Recto-vesicle fistula
  • Atrial septal defect
  • Poor sphincter control
  • Digestive tract abnormalities
  • Malformed scrotum
  • Undescended testes
  • Contractures in foot
  • Absence of some spinal vertebral bodies
  • Agenesis of sacrum
  • Agenesis of coccyx
  • Transverse 12th rib
  • Small kidneys
  • Poor bladder control
  • Underdeveloped external genitals
  • Vertebral anomalies
  • Congenital heart disease
  • Tracheoesophageal fistula
  • Kidney anomalies
  • Limb defects
  • Incomplete spinal disks
  • Urethral fistula
  • Vaginal fistula
  • Ventricular septal defect
  • Absence of part or all of kidney
  • Absent radial limb
  • Absence of part of radial limb
  • Extra fingers
  • Missing fingers
  • Growth retardation
  • Malar hypoplasia
  • Small jaw
  • Small ears
  • Accessory preauricular tags
  • Preauricular pits
  • Middle ear anomaly
  • Deafness
  • Epibulbar dermoid
  • Lipodermoid
  • Strabismus
  • Small eye
  • Inner ear defect
  • Cleft lip
  • Cleft palate
  • Ureteral duplication
  • Mental deficiency
  • Underdeveloped lung
  • Aplasia of lung
  • Hydrocephalus
  • Encephalocele
  • Agenesis of corpus callosum
  • Hypoplasia of septum pellucidum

Causes

  • Situs inversus viscerum
  • Marden-Walker syndrome
  • Kartagener's syndrome
  • Cumming syndrome

Resources

  • NIH