Acondroplazy - Signs and symptoms

Acondroplazia is characterized by abnormal bone growth and determination of short stature with disproportionate short arms and legs, large head with front boselare, collapsed chest, increased weight and characteristic facial features. Intelligence and lifespan are usually normal, although the risk of infant death by compression of the brain or spinal meduvei is increased.
Neuro-motor and cognitive development: Gross motor movements are delayed, and independent control of head and buttocks in children. Speech and language problems are caused by language but protruzionata resolve spontaneously.Expanding skull and control put poor children at risk of head injury by extension. Height is below the third percentile in both sexes.Cause abnormal development of the skull base and a small foramen magnum insuficeinta respiratory, apnea, cyanosis, cvadripareza, sudden death. They are more common early in life.
Spinal canal stenosis: Leads to symptoms such as back pain, sciatica, diestezii, paresthesia, paraparesis, incontinence and neurological claudication. Claudication is felt as fatigue or muscle cramps in legs induced by walking or standing. Over 50% of patients have horse tail syndrome. Mean age of the installation of back pain is 25 years.
Spine deformities: Before the child is walking biped thoracolombar kyphosis and lordosis interscapulara. Can be severe kyphosis in the sitting position and can reduce pronation. Once it is installed is running exaggerated lumbar lordosis with anterior pelvic rotation and hip flexion contractures prominent abdomen and buttocks prominent.
Limb deformities: Extreme upper extremity impairment is rizomelica with proximal segments most involved than the distal. Shoulders appear larger because the normal development and muscle clavizulei. Short arms contribute to the formation of muscle mass and appearance developed scapular muscles. The total loss of elbow extension.Damage is rizomelica legs with flexion contractures of the hip, ligament laxity and external rotation with genu recurvatum before walking. Tibia varum genu forcing arched.
Respiratory Complications: 75% of otitis media in patients under the age of 5 years. Recurrent otitis media is common in poor drainage tube Eustachio, with hypertrophy of tonsils and adenoidelor. Hearing loss occurs through movements osicioarelor stiffness and can be congenital or gained from recurrent otitis media. Maxillary hypoplasia and lead to malocclusion, who underwent subduction. Upper airway obstruction, lower chest wall, pectus excavatus and neurological effects of brain compression reduces vital capacity.The incidence of pneumonia, cyanotic episodes, apnea and other respiratory complications is increased. Symptoms of airway obstruction include: snoring, sleeping with open mouth and neck in hyperextension.
Physical examination: Neurological features: Hypotonia in childhood, Late-initiation of walking biped -Normal intelligence with minor visual-spatial deficit. Craniofacial features: Calvarine-bones high in contrast with the small skull and facial bones Large-cap-megalencefalie front bose Medium-face hypoplasia Malocclusion, who underwent dental-and subduction. Skeletal features: Disproportionate, short stature, the average adult male height is 131 cm and 124 cm in women Normal-height of the trunk that seems long, small thoracic cage Upper limb-shortening rizomelica with folds of skin Bradidactilia and configuration in the hand-trident -Gibus thoracolombar in childhood is replaced after the initiation of compensatory gait hiperlordoza -Extensible joints, especially knees Limited extension of the elbow- -Genu varum in both legs.
Disease progression: Morbidity associated with acondroplazia may include: recurrent otitis media with hearing loss, neurological complications cervicomedulara compression (hypotonia, respiratory insufficiency, apnea, cyanotic episodes, problems of nutrition, cvadripareza, sudden death). Other complications include pneumonia, apnea, spinal deformities, obesity, hidrocefalus, genu varum.