Topic 6 Genetic Disorders and Malformation PDF

University of Jordan Orthopaedics Genetic disorders and malformation Dr. Bashar Al Qaroot BSc (Hons), MSc by research, PhD Dr. Bashar Al Qaroot...

University of Jordan Orthopaedics Genetic disorders and malformation Dr. Bashar Al Qaroot BSc (Hons), MSc by research, PhD Dr. Bashar Al Qaroot Slide 1 University of Jordan Learning outcomes Recognize genetic and Disorders disorders Dr. Bashar Al Qaroot Slide 2 University of Jordan Disorders A practical grouping of developmental disorders 1. Gentic disorders of cartilage and bone growth (chondro-osteodystrophies) I. Dysplasias with predominantly epiphyseal changes II. Dysplasias with predominantly epiphyseal and metaphyseal changes III. Dysplasias with predominantly diaphyseal changes Dr. Bashar Al Qaroot Slide 3 University of Jordan Disorders A practical grouping of developmental disorders 2. Gentic disorders I. OI (brittle bone) II. Generlized joint laxity 3. Enzyme defects 4. Chromosome disorders (Down’s syndrome) Dr. Bashar Al Qaroot Slide 4 University of Jordan Disorders Dysplasia…..epiphyseal change Multiple MED varies in severity (mild to life threatening) Widespread involvement Vertebrae (not\only mildly) Familial disorder Long bone epiphysis develop abnormally Underdeveloped growth or pain and deformity Dr. Bashar Al Qaroot Slide 5 University of Jordan Disorders Dysplasia…..epiphyseal change Multiple The face, skull and spine are normal In adulthood….joint incongruity and secondary OA Dr. Bashar Al Qaroot Slide 6 University of Jordan Disorders Dysplasia…..epiphyseal change Spondyloepiphysial dysplasia SED is associated with vertebral changes, delyead ossification, flattening of the vertebral bodies, irregular ring epiphyses and irregular indentation of the endplates SED congenita… short limbs shorter trunk Infants Neck hardly there Dr. Bashar Al Qaroot Slide 7 University of Jordan Disorders Dysplasia…..epiphyseal change Spondyloepiphysial dysplasia Dorsal kyphosis Barrel-shaped chest Older children Stand with flexed hips Marked lumbar lordosis Scoliosis Adult Dr. Bashar Al Qaroot Slide 8 University of Jordan Disorders Dysplasia…..epiphyseal change SED conginita Dr. Bashar Al Qaroot Slide 9 University of Jordan Disorders Dysplasia….. physeal & metaphyseal change Hereditary multiple exostosis The most common dysplasias Congenital disorder Multiple exostoses appear at the long bone metaphyses and apophysial boarders Each exostosis is covered by cartilage and keep on growing (CA after riser 5) Could result in deformities Dr. Bashar Al Qaroot Slide 10 University of Jordan Disorders Dysplasia….. physeal & metaphyseal change Hereditary multiple exostosis Discoverable late at childhood Hard lumps at the ends of long bone Slightly short child Bowing of the forearm and valgus knees Imperfect modelling of the metaphysis Dr. Bashar Al Qaroot Slide 11 University of Jordan Disorders Dysplasia….. physeal & metaphyseal change Hereditary multiple exostosis Dr. Bashar Al Qaroot Slide 12 University of Jordan Disorders Dysplasia….. physeal & metaphyseal change Achondroplasia Classic example of abnormally short stature Inherited Usually affected individuals don’t have children It may appear due to gene mutation Dr. Bashar Al Qaroot Slide 13 University of Jordan Disorders Dysplasia….. physeal & metaphyseal change Achondroplasia Dr. Bashar Al Qaroot Slide 14 University of Jordan Disorders Dysplasia….. diaphyseal change Osteopetrosis Less severe and not apparent at birth Commonly benign Will not be discussed here Dr. Bashar Al Qaroot Slide 15 University of Jordan Disorders Connective tissue disorders Generlized ligament laxity 5% have hypermobile joints Beighton score > 5 1. Passive hyperextension of the MCP >90 (score 2) 2. Passive strtching of the thumb to touch the radial forearm (score 2) 3. Hyperextension of the elbow (score 2) Dr. Bashar Al Qaroot Slide 16 University of Jordan Disorders Connective tissue disorders Generlized ligament laxity 1. Hyperextension of the knees(score 2) 2. Bend forward and place the hands flat on the floorwith straight knees (1 score) Runs in families (inherited) Not disabling by itself but could lead to deteriorating other disorders (scoliosis) Dr. Bashar Al Qaroot Slide 17 University of Jordan Disorders Connective tissue disorders Marfan’s syndrom Affects the bone, joint, ligament, eyes and cardiovascular system Patients are tall (arms and legs mainly) Long digits (spider fingers) Spondylolesthesis and scoliosis Generlized joint laxity Flatfeet Dr. Bashar Al Qaroot Slide 18 University of Jordan Disorders Connective tissue disorders Marfan’s syndrom Dr. Bashar Al Qaroot Slide 19 University of Jordan Disorders Connective tissue disorders OI Also known as brittle bone Common inherited bone disorder (1:20000) Defect in synthesis of type I collagen Involvement of bone (osteopenia), skin, teeth, ligament (lax) Brocken bone during infancy and childhood At 6, sever deformity (scoliosis, bow leg) Dr. Bashar Al Qaroot Slide 20 University of Jordan Disorders Connective tissue disorders OI In milder cases, fractures appear a year after being born In severe cases, fractures may develop in the womb (lives for few weeks) Dr. Bashar Al Qaroot Slide 21 University of Jordan Disorders Connective tissue disorders OI Dr. Bashar Al Qaroot Slide 22 University of Jordan Disorders Connective tissue disorders OI Dr. Bashar Al Qaroot Slide 23 University of Jordan Malformation Localized malformations Vertebrae or limbs Very common Discovered incidentally! Mostly idiopathic Maternal infection or drug administration could be the cause Dr. Bashar Al Qaroot Slide 24 University of Jordan Malformation Vertebral anomalies Dr. Bashar Al Qaroot Slide 25 University of Jordan Malformation Vertebral anomalies Dr. Bashar Al Qaroot Slide 26 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Missing or incomplete limbs at birth. The overall prevalence is 7.9/10,000 live births. Most are due to primary growth inhibition of normal embryonic tissues. The upper extremities are more commonly affected. Dr. Bashar Al Qaroot Slide 27 University of Jordan Malformation Congenital loss of the limb (limb deficiency) vitamin A is a known cause of hypoplastic/absent limbs. Limb deficiencies can be: 1.Longitudinal (more common) 2.Transverse Dr. Bashar Al Qaroot Slide 28 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Transverse deficiencies are when all elements beyond a certain level are absent, The limb resembles an amputation stump. The degree of deficiency varies based on the location of the band, and typically, there are no other defects or anomalies. Dr. Bashar Al Qaroot Slide 29 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Longitudinal deficiencies involve specific maldevelopments (e.g. complete or partial absence of the radius, fibula, or tibia). Radial ray deficiency is the most common upper-limb deficiency, and hypoplasia of the fibula is the most common lower-limb deficiency. About two thirds of cases are associated with other congenital disorders Dr. Bashar Al Qaroot Slide 30 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Radial deficiency Short forearm Underdeveloped hand Missing thump Abnormal elbow ½ cases are bilateral Dr. Bashar Al Qaroot Slide 31 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Dr. Bashar Al Qaroot Slide 32 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Ulnar deficiency Hypoplasia of the distal end of the ulna Congenital absence Dr. Bashar Al Qaroot Slide 33 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Dr. Bashar Al Qaroot Slide 34 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Ulnar deficiency Type 1 : mildest. The ulna is slightly smaller Type 2 : most common. The ulna is partially missing and there is an abnormal bar of fibrous tissue called an anlage connecting the end of the ulna to the wrist. Type 3 : A child does not have an ulna and their elbow is unstable. Type 4 : A child is missing the ulna and has a fixed connection between their humerus and radius (radiohumeral synostosis). Dr. Bashar Al Qaroot Slide 35 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Radioulnar synostosis limitation in rotation Abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth Dr. Bashar Al Qaroot Slide 36 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Femoral deficiency Shortening with normal hip and knee (mildest) Dr. Bashar Al Qaroot Slide 37 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Femoral deficiency Type A : gap at proximal part (usually ossifies) Type B: gap at proximal part (no ossification) Type C: missing head and neck Type D: acetabulum and proximal femur absent Dr. Bashar Al Qaroot Slide 38 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Femoral deficiency (PFFD) Dr. Bashar Al Qaroot Slide 39 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Tibial deficiency Dr. Bashar Al Qaroot Slide 40 University of Jordan Malformation Congenital loss of the limb (limb deficiency) Fibular deficiency Most common long bone deficiency Mild with little shortening Complete missing of fibula cause shortening of the leg with bowing Dr. Bashar Al Qaroot Slide 41 University of Jordan Malformation Dr. Bashar Al Qaroot Slide 42 University of Jordan Malformation Dr. Bashar Al Qaroot Slide 43 University of Jordan Malformation Proximal femoral focal deficiency Dr. Bashar Al Qaroot Slide 44