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* Home * Chapters * Lesson Plans * Editors * Help CONGENITAL * Absent and Hypoplastic Disorders * Brachial Plexus Birth Injury * Cerebral Palsy * Embryology and Classification * Finger and Thumb Anomalies * Hand and Wrist Fractures and Dislocations * Physeal Injury (Traumatic and Acquired) * Polydactyly * Syndactyly and Symbrachydactyly * Wrist and Upper Limb Anomalies GENERAL PRINCIPLES * Anesthesia (including WALANT) * Compartment Syndrome * Imaging * Infections * Medical Conditions * Principles of Hand and Wrist Arthroscopy HAND AND WRIST: BONE AND JOINT * Carpal Fractures (including Malunion and Nonunion) * Distal Radius and Ulna Fractures (including Malunion and Nonunion) * DRUJ Arthritis * DRUJ Injury and Reconstruction * Intercarpal and Radiocarpal Arthritis * Metacarpal Injuries (including Malunion and Nonunion) * Osteoarthritis of Fingers (including Arthroplasty) * Osteoarthritis of the Thumb (including Arthroplasty) * Phalangeal Injuries (including Malunion and Nonunion) * PIP Dislocations and Fracture Dislocations * Scaphoid Fractures * Scaphoid Fractures (Nonunion) * Scapholunate Ligament Injuries and Reconstruction * Thumb Fractures and Ligament Injuries * Wrist Dislocations and Instability (not including SL) HAND AND WRIST: SOFT TISSUE * Acute Flexor Tendon Injuries * Burns * Extensor Tendon Injury * Fingertip and Nail Bed Injuries * Flexor Tendon Reconstruction * Free Tissue Transfer * Local and Regional Flaps for Hand Reconstruction * Replantation * Tendinopathies * The Mangled Hand and Amputation NERVE * Adult Brachial Plexus Injuries (Reconstruction, Nerve Transfers, Late Reconstruction) * Median Nerve Compression * Median Nerve Injury, Repair and Tendon Transfers * Nerve Injury and Repair * Radial Nerve Compression * Radial Nerve Injury, Repair and Tendon Transfers * Ulnar Nerve Compression * Ulnar Nerve Injury, Repair and Tendon Transfers DISORDERS AND DISEASES * AVN of Hand and Wrist * Complex Regional Pain Syndrome (CRPS) * Dupuytren Disease * Primary Bone Tumors * Psychological Aspects of Arm Illness * Rheumatoid and Inflammatory Arthropathies * Soft Tissue Tumors * Tetraplegia and Stroke * Upper Limb Amputation, TMR, Prosthetics * Vascular Disorders Log In * User Agreement * Log Out Congenital EMBRYOLOGY AND CLASSIFICATION * * Saved! * Summary * Key Points/Anatomy * Full Text * Media * Key Articles * Questions * Authors * Related Info SUMMARY * SHARE SHARE THIS PAGE COPY LINK COPIED! SHARE VIA EMAIL INTRODUCTION * Upper limb malformations relatively common * 1/500 live births * Limb formation requires precise process and timing * Understanding normal process improves understanding of congenital hand anomalies * Important genes (Table 1) -------------------------------------------------------------------------------- LIMB FORMATION * Begins 24th day after fertilization * Process complete by 52nd day * Presumptive upper limb-forming field * Between somites 8–12 * Formed from lateral plate mesoderm * Eventually becomes limb bud * Transplantation of cells from the presumptive limb-forming field results in an ectopic limb * Wnt and retinoic acid upregulate Tbx5 * Tbx5 stimulates Fgf10 -> proliferation of lateral plate mesoderm * Controlled by homeobox gene family (HOX A–D) ( Fig. 1 ) * Continuous group of genes activated sequentially * Hox genes control multiple processes * Limb bud formation and positioning, limb segmentation, cell differentiation * Tissue origins * Lateral plate mesoderm cells differentiate into several cell types * Cartilage, perichondrium, dermis, connective tissue, ligaments, tendons * Ectoderm -> epidermis, nail structures * Nerves originate from spinal cord and neural crest cells * Muscles originate from somites -------------------------------------------------------------------------------- UPPER LIMB AXES ( FIG. 1 ) * Proximal-distal axis * Controlled by apical ectodermal ridge (AER) * Fgf10 induces Wnt 3 secretion * Wnt3 induces AER to secrete Fgf8 which has a positive feedback loop with Fgf10 * + feedback critical to proximal-distal growth * Anterior-posterior axis (radial ulnar axis) * Controlled by zone of polarizing activity (ZPA) * Induced by Hand2 to produced Sonic hedgehog (Shh) * Hand2 also inhibits anterior factors * Anterior limb bud * Irx3/5, Alx4, Gli3 play critical role * Radius/thumb development * Dorsal-ventral axis * Controlled by dorsal ectoderm * Wnt7a expressed in the dorsal ectoderm ( Fig. 4 ) * Induces Lmxb1 expression * Lmxb1 mutations result in Nail-Patella Syndrome * En1 expression in ventral ectoderm inhibits Wnt7a -------------------------------------------------------------------------------- LIMB SEGMENTATION ( FIG. 2 ) * Three limb regions * Upper arm (stylopod) * Retinoic acid from the flank results in upregulation of Meis1 in proximal limb bud * Shox2 also expressed in proximal limb bud * Forearm (zeugopod) * Predominate signals from HoxA11 and Shox * Hand (Autopod) ( Fig. 3 ) * HoxA13 expression is important in segmentation * Shh interacts with Gli3 to maintaining its active form in the ulnar aspect of the hand * In the absence of Shh, Gli3 Gli3R, which promotes radial digit patterning, reduces digit number * Hand plate width correlates w/ number of digits that can form * Phalanx forming region * Promotes phalanx growth and segmentation * Mesodermal condensation on tip of each digit * AER between these regions regresses and apoptosis creates web spaces -------------------------------------------------------------------------------- VESSEL FORMATION * Limb bud initially supported by central artery * From primitive subclavian artery * Marginal sinuses return blood to primitive central venous system * Early limb bud * Proximal veins merge centrally to form primitive subclavian vein * Vascular system changes by three methods * Primitive vascular channels coalesce, angiogenesis (new vessels sprout), entirely new vessels form (vasculogenesis) * Angioblast migrate into limb * Remodel capillary system into larger vessels * Somite derived * VegF important signaling molecule * Vessels remodel from proximal to distal and ulnar to radial * Major vessels of arm and forearm—day 48 * Palmar arches and digital vessels—day 52 -------------------------------------------------------------------------------- SKELETON FORMATION * Sox 5+6 promote transformation of chondrogenic precursors -> chondrocytes * Day 35—Y-shaped cartilage anlagen * Eventual humerus, radius, and ulna * Days 37–44 distal end of limb bud expands and autopod formation occurs * Carpals, metacarpals, proximal/middle phalanges, distal phalanges form by different mechanisms * Digits form in a reliable pattern ( Fig. 5B ) * Digit 4 forms first, Digit 1 forms last * Runx2 key transcription factor resulting in osteoblast differentiation * Subsequently cartilage anlagen ossifies * Joint formation * Occurs at interzones that expand, become hypocellular, and cavitate * Gdf5 is required for joint formation * Joint movement results in mechanical reshaping of the articular surface -------------------------------------------------------------------------------- MUSCLE FORMATION ( FIG. 6B ) * Muscle and tendon formation occur concurrently and are interdependent * Occurs from proximal to distal * Muscles are evident in arm and forearm at day 41 * Myocytes migrate from the somite -------------------------------------------------------------------------------- INNERVATION ( FIG. 6C ) * Sensory and motor nerve fibers have different origins * Motor neurons form in developing spinal cord * Prior to limb bud outgrowth * Shh from notochord specifies motor neuron differentiation * Sensory neurons reside within the dorsal root ganglia * Arise from neural crest cells * Ngn1/2 expression induces formation -------------------------------------------------------------------------------- CLASSIFICATION * Improves communication between providers and specialties * Swanson Classification * Original scheme * Based on morphology * Oberg-Manske-Tonkin Classification (Table 2) * Adopted by IFSSH in 2014, updated in 2020 * Periodic modification allows improvement over time * Based on etiology of congenital conditions * High intra- and inter-rater reliability * Three main categories * Malformations, deformations, dysplasia * Also allows for classification of syndromes associated with congenital hand differences * Multiple codes can be applied to patients with more than one 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