Achondroplasia is a condition that causes dwarfism or a dwarf body and belongs to a group of bone growth disorders.
Characteristic of achondroplasia sufferers
Achondroplasia sufferers have short arms and legs. In addition to achondroplasia, other causes of dwarfism include growth hormone disorders and turner's syndrome.
Of all cases of achondroplasia, 80% of them do not occur due to heredity, but spontaneous genetic mutations. While 20% of them are inherited from parents who also experience this condition.
Adult achondroplasia patients rarely reach 152 cm tall. Their average height is around 124-132 cm when newborn,
achondroplasia babies can be recognized from physical symptoms, in the form of stature of the body, legs, arms, and fingers that look short. Their head also looks bigger than the body, and the forehead looks abnormally protruding. After entering childhood and adulthood, physical achondroplasia sufferers will appear increasingly clear. In addition to being stunted, the backbone and legs of the patient appear curved.
They also find it difficult to bend the elbows completely. In the human body there is a gene called FGFR3. This gene functions for bone growth and maintenance.
Mutations in this gene cause disruption of cartilage to bone. Impaired bone growth makes sufferers of this condition become stunted.
Characteristic of achondroplasia sufferers
Achondroplasia sufferers have short arms and legs. In addition to achondroplasia, other causes of dwarfism include growth hormone disorders and turner's syndrome.
Of all cases of achondroplasia, 80% of them do not occur due to heredity, but spontaneous genetic mutations. While 20% of them are inherited from parents who also experience this condition.
Adult achondroplasia patients rarely reach 152 cm tall. Their average height is around 124-132 cm when newborn,
achondroplasia babies can be recognized from physical symptoms, in the form of stature of the body, legs, arms, and fingers that look short. Their head also looks bigger than the body, and the forehead looks abnormally protruding. After entering childhood and adulthood, physical achondroplasia sufferers will appear increasingly clear. In addition to being stunted, the backbone and legs of the patient appear curved.
They also find it difficult to bend the elbows completely. In the human body there is a gene called FGFR3. This gene functions for bone growth and maintenance.
Mutations in this gene cause disruption of cartilage to bone. Impaired bone growth makes sufferers of this condition become stunted.
Post a Comment