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Embryology limb defects

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This document discusses various congenital limb defects including: - Meromelia which is the partial absence of a limb - Amelia which is the complete absence of a limb - Phocomelia where the long bones are absent and the hands/feet are attached to the trunk - Micomelia where all limbs are present but abnormally short The causes of many limb defects are genetic mutations affecting genes like HOXD13, TBX5, COL1A1, COL1A2, and fibrillin. Environmental factors like vascular problems in utero can also lead to transverse limb deficiencies.

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EMBRYOLOGY TOPIC: LIMB DEFECTS
Congenital Limb Deformities: Congenital limb deformities are birth defects in which a fetuss limbs do not form properly while in uterus Following are the possibilities A baby may be have missing limbs A baby may be have extra limb Over growth of limb Under growth of limb fingers or toes may fail to separate
MEROMELIA : Partial absent on limb AMELIA: Complete absence of a limb
PHOCOMELIA: Long bones are absent Hand or feet attached to trunk MICROMElIA: all limbs are present but abnormally short
BRACHYDACTYLY: Short digits of hand and foot SYNDACTYLY Fused fingers and toes
POLYDACTYLY: The presence of extra finger or toe ECTRODACTYLY: Absence of digits
CLEFT HAND AND FOOT Consist of a cleft between 2nd and 4th Metacarpal bone 3rd metacarpal is absent Thumb, index finger ,4th and 5th finger is fused CAUSES : Mutation in the HOXD13 gene results in hand foot genital syndrome
HOLT ORAM SYNDROME: Upper limb abnormalities heart defects Absent digits Absent radius Hypoplasia Polydactyly Syndactyly CAUSES: mutation in TBX5 gene
OSTEOGENESIS IMPERFECTA: Shortening ,bowing and hypomineralization Of long bones It can cause fractures Causes: Mutation in COL1A1 OR COL1A2 gene that form type 1 collagen
MARFAN SYNDROME : Individuals are long slender Long thin limbs Long thin face CAUSES: Mutation in fibrillin CLUB FOOT : Foot pointed downward Foot is rotated toward the other foot Cause : mutation of PITX1 gene
CONGENITAL ABSENCE OF RADIUS : Radius is absent CRANIOSYNOSTOSIS RADIAL APLASIA SYNDROME : (Beller Gerold syndrome) They have stenosis of one or more Cranial sutures Absence of radius
TRANSVERSE LIMB DEFICIENCIES : Proximal structures are intact Structures distal to transverse plane are Partially or completely absent CAUSES : Vascular thrombosis Vasoconstriction CONGENITAL HIP DISLOCATION : Under development of acetabulum And head of femur Common in female newborns Occur after birth
Embryology limb defects

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Embryology limb defects

  • 2. Congenital Limb Deformities: Congenital limb deformities are birth defects in which a fetuss limbs do not form properly while in uterus Following are the possibilities A baby may be have missing limbs A baby may be have extra limb Over growth of limb Under growth of limb fingers or toes may fail to separate
  • 3. MEROMELIA : Partial absent on limb AMELIA: Complete absence of a limb
  • 4. PHOCOMELIA: Long bones are absent Hand or feet attached to trunk MICROMElIA: all limbs are present but abnormally short
  • 5. BRACHYDACTYLY: Short digits of hand and foot SYNDACTYLY Fused fingers and toes
  • 6. POLYDACTYLY: The presence of extra finger or toe ECTRODACTYLY: Absence of digits
  • 7. CLEFT HAND AND FOOT Consist of a cleft between 2nd and 4th Metacarpal bone 3rd metacarpal is absent Thumb, index finger ,4th and 5th finger is fused CAUSES : Mutation in the HOXD13 gene results in hand foot genital syndrome
  • 8. HOLT ORAM SYNDROME: Upper limb abnormalities heart defects Absent digits Absent radius Hypoplasia Polydactyly Syndactyly CAUSES: mutation in TBX5 gene
  • 9. OSTEOGENESIS IMPERFECTA: Shortening ,bowing and hypomineralization Of long bones It can cause fractures Causes: Mutation in COL1A1 OR COL1A2 gene that form type 1 collagen
  • 10. MARFAN SYNDROME : Individuals are long slender Long thin limbs Long thin face CAUSES: Mutation in fibrillin CLUB FOOT : Foot pointed downward Foot is rotated toward the other foot Cause : mutation of PITX1 gene
  • 11. CONGENITAL ABSENCE OF RADIUS : Radius is absent CRANIOSYNOSTOSIS RADIAL APLASIA SYNDROME : (Beller Gerold syndrome) They have stenosis of one or more Cranial sutures Absence of radius
  • 12. TRANSVERSE LIMB DEFICIENCIES : Proximal structures are intact Structures distal to transverse plane are Partially or completely absent CAUSES : Vascular thrombosis Vasoconstriction CONGENITAL HIP DISLOCATION : Under development of acetabulum And head of femur Common in female newborns Occur after birth