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Limb Development & Developmental Disorders (eg, Polydactyly)
limb and digit development
  • Upper limb bud forms at ~ day 24. Lower limb bud at ~ day 28.
  • Core of mesenchyme, surrounded by ectoderm.
  • AER (apical ectodermal ridge) forms a thickening at the distal end.
Limb disorders
  • Amelia - absence of a limb.
  • Meromelia - absence of a part of a limb.
digit disorders
  • Syndactyly - webbing (fusion) of digits.
  • Polydactyly - presence of extra digits.
  • Brachydactyly - shortening of digits.

Limb Development & Developmental Disorders (eg, Polydactyly)

limb and digit development
  • The upper limb bud forms at ~ day 24, followed shortly thereafter by the lower limb bud (at ~ day 28).
  • The limb bud comprises a core of mesenchyme, surrounded by ectoderm.
  • The AER (apical ectodermal ridge) forms a thickening at the distal end of the limb bud.
  • The distal upper limb bud forms a digital plate, distally (for the fingers) and a carpal plate (for the hand). Then, via programmed cell death, digital rays form.
common limb disorders: terminology
  • Amelia is absence of a limb.
  • Meromelia is absence of a part of a limb.
digit disorders
  • Syndactyly is webbing (fusion) of digits.
  • Polydactyly is presence of extra digits.
  • Brachydactyly is shortening of digits.
See associated Syndromes of Multiple Premature Closure of Cranial Sutures
Known Teratogens that cause limb and digit malformations, include
Pharmaceuticals
  • Valproate
  • Phenytoin
  • Warfarin
Toxins
  • Cocaine
  • Alcohol (fetal alcohol syndrome)
Metabolic conditions
  • Hyperglycemia (gestational diabetes)
Infections
  • Varicella Zoster