Achondroplasia is idenified by abnormal bone growth that results in short stature with unbalanced short arms and legs, a large head, and characteristic facial features with frontal bossing and mid-face hypoplasia. Achondroplasia is a inherited disorder which results in abnormally short significance.

Achondroplasia is a disorder of bone growth. The common changes cause a gain of function of the FGFR3 gene, resulting in reduced endochondral bone formation, inhibited proliferation of chondrocytes in growth plate cartilage, decreased cellular hypertrophy, and decreased cartilage matrix production Although achondroplasia literally means “without cartilage formation,” the problem is not in forming cartilage but in converting it to bone, particularly in the long bones of the arms and legs. The main characterstic is a symmetrical proximal limb condensing, rhizomelia, the humeri and femora are particularly affected. Achondroplasia is featurised by abnormal bone growth which results in short importance with disproportionately short arms and legs, a large head, and characteristic facial features with frontal bossing and mid-face hypoplasia.

The problem in this situation is transforming the cartilage into bones, particularly the long bones. The characteristic facial features include a prominent forehead and a flattened bridge of the nose. In those impaired with the disorder, the limbs are very short , though trunk is almost normal in size. The normal height of adult males having achondroplasia is 52 inches (or 4 feet, 4 inches). This contracting can put pressure on the spinal cord or on the nerves that creek out from the compressed areas

Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism. In infancy and childhood, middle ear infections often occur because of the small nasal passages and Eustachian tube dysfunction. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch).

Achondroplasia is caused by mutations in the gene for fibroblast growth factor receptor-3. Achondroplasia is the commonest disproportionate dwarfism. It is inherited as an autosomal dominent. Achondroplasia can be diagnosed by characteristic clinical and radiographic findings in most affected individuals. 85% of case incidence is from a spontaneous mutation. In general, spinal stenosis can cause cramping, pain or numbness in your legs, back, neck, shoulders or arms; a loss of sensation in your extremities; and sometimes problems with bladder or bowel function.

Achondroplasia is the most common type of dwarfism, in which the child’s arms and legs are short in proportion to body length. Achondroplasia is the most common cause of dwarfism. The appearance is of short stature with disproportionately short arms and legs and a large head.Achondroplasia is the most common cause of short stature with disproportionately short limbs.

Causes of Achondroplasia

Common causes of Achondroplasia :

• Shortened arms and legs
• Normal-sized trunk
• Waddling gait
• Large-sized head
• Shaped skull

Symptoms of Achondroplasia

Common symptoms of Achondroplasia :

• Hypotonia
• Bowed legs
• Polyhydramnios
• Spinal stenosis
• Waddling gait

Treatement of Achondroplasia

Common Treatement of Achondroplasia :

• Monitoring of height, weight, and head circumference using growth curves standardized for achondroplasia.
• MRI or CT of the foramen magnum region for evaluation of severe hypotonia or signs of spinal cord compression.
• Measures to avoid obesity starting in early childhood. Recommend that children with achondroplasia stay within one standard deviation of the mean weight on the achondroplasia growth curves .
• Careful neurologic examinations, with referral to a pediatric neurologist as necessary.
• Evaluation for low thoracic or high lumbar gibbus if truncal weakness is present.
• Obtaining history for possible sleep apnea, with sleep studies as necessary.