CONGENITAL ANOMALIES DEVELOPMENTAL DISORDERS AND DYSPLASIAS Melih Güven, M.D Assoc. Prof. Yeditepe University Hospital Department of Orthopaedics and Traumatology Istanbul

Congenital Anomalies Physical variations those disorganize physical appearance and function Can be in a single part of extremity in one extremity multiple combined with severeal anomalies

Congenital Anomalies Etiology Genetic Non-genetic Single gene pathology Multiple genes pathologies Chromosomal anomalies Non-genetic Teratogenic İdiopathic

Congenital Anomalies Classification Interruption of development (Facomelia, Aphalangea) Separation deficit Duplication Overgrowth Hypoplasia Constructive band syndrome Generalized skeletal anomalies

Congenital Anomalies Classification Interruption of development Separation deficit (Syndactyly) Duplication Overgrowth Hypoplasia Constructive band syndrome Generalized skeletal anomalies

Congenital Anomalies Classification Interruption of development Separation deficit Duplication (Polydactyly) Overgrowth Hypoplasia Constructive band syndrome Generalized skeletal anomalies

Congenital Anomalies Classification Interruption of development Separation deficit Duplication Overgrowth (Macrodactyly) Hypoplasia Constructive band syndrome Generalized skeletal anomalies

Congenital Anomalies Classification Interruption of development Separation deficit Duplication Overgrowth Hypoplasia (Phalangeal hypoplasia) Constructive band syndrome Generalized skeletal anomalies

Congenital Anomalies Classification Interruption of development Separation deficit Duplication Overgrowth Hypoplasia Constructive band syndrome Generalized skeletal anomalies

Congenital Anomalies Classification Interruption of development Separation deficit Duplication Overgrowth Hypoplasia Constructive band syndrome Generalized skeletal anomalies (Arthrogryposis multiplex congenita)

Congenital Anomalies Treatment Controversies about timing of treatment Before the recognition of upper extremity Before walking for the lower extremity Treatment modalities Reconstructions (esp. in upper extr.) Deformity correction and extremity lengthening Amputations

Torticollis Sternocleidomastoid (SCM) muscle spasm or contracture Congenital or acquired Association with DDH Before 1st year of life – conservative After 1st year – surgical release

Radial Club Hand Partial or total absence of radius Associated congenital cardiac pathologies, abdominal pathologies and haematologic diseases Surgical reconstruction after 6 months of age

Madelung Deformity Unknown etiology (may be developmental) Undergrowth of distal radial epiphysis Ulnar deviation of the wrist Corrective osteotomies and reconstruction

Syndactyly Partial – Total Simple – Complex Surgery for hands Observation for foot

Polydactyly Preaxial, postaxial, central Surgery for both hands and feet

Macrodactyly Can be associated with vascular anomalies or neurofibromatosis Severe functional and cosmetic problems Reconstruction or amputation

Cleft Hand – Cleft Foot Absence of central ray of hand or foot Reconstructive surgeries

Trigger Finger Developmental Frequently in thumb Surgical release of A1 pulley

Lower extremity long bone deficiencies Proximal focal femoral deficiency Tibial hemimelia Fibular hemimelia

Clubfoot (Pes Equinovarus) Most common congenital foot deformity Early diagnosis and treatment are very important Conservative treatment – GOLD standard Corrective manipulation and serial casting

Vertical Talus Rigid pes planovalgus Can be associated with syndromes Surgical correction in early ages is necessary

Postural Foot Deformities Metatarsus adductus Calcaneovalgus

Others… Constructive band syndrome Arthrogryposis multiplex congenita Freeman-Sheldon syndrome Hold-Oram syndrome Poland syndrome Down syndrome Marfan syndrome Neurofibromatosis

Others… Constructive band syndrome Arthrogryposis multiplex congenita Freeman-Sheldon syndrome Hold-Oram syndrome Poland syndrome Down syndrome Marfan syndrome Neurofibromatosis

Others… Constructive band syndrome Arthrogryposis multiplex congenita Freeman-Sheldon syndrome Hold-Oram syndrome Poland syndrome Down syndrome Marfan syndrome Neurofibromatosis

Others… Constructive band syndrome Arthrogryposis multiplex congenita Freeman-Sheldon syndrome Hold-Oram syndrome Poland syndrome Down syndrome Marfan syndrome Neurofibromatosis

Others… Constructive band syndrome Arthrogryposis multiplex congenita Freeman-Sheldon syndrome Hold-Oram syndrome Poland syndrome Down syndrome Marfan syndrome Neurofibromatosis

Others… Constructive band syndrome Arthrogryposis multiplex congenita Freeman-Sheldon syndrome Hold-Oram syndrome Poland syndrome Down syndrome Marfan syndrome Neurofibromatosis

Others… Constructive band syndrome Arthrogryposis multiplex congenita Freeman-Sheldon syndrome Hold-Oram syndrome Poland syndrome Down syndrome Marfan syndrome Neurofibromatosis

Others… Constructive band syndrome Arthrogryposis multiplex congenita Freeman-Sheldon syndrome Hold-Oram syndrome Poland syndrome Down syndrome Marfan syndrome Neurofibromatosis

You should remember … Classification of congenital anomalies Definition of most common deformities Torticollis Syndactyly, polidactyly, macrodactyly Cleft Hand Clubfoot (PEV) Trigger finger

Thank you …