D2I2.
genetic

Achondroplasia

Achondroplasia is a disorder whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of 131 centimetres for males and 123 centimetres (4 ft) for females. Other features can include an enlarged head with prominent forehead and underdevelopment of the midface. can include sleep apnea or recurrent ear . Achondroplasia includes the extremely rare short-limb with severe combined .

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·Short arms and legs, enlarged head, prominent forehead

Causes — why it happens

  • · ( in the FGFR3 gene)

How it's found

  • ·Based on symptoms, testing if uncertain

Treatment

  • ·Support groups, growth therapy, treatment of

Complications

  • ·Ear , hyperlordosis, back pain, spinal , hydrocephalus
Plain-language summary adapted from Wikipedia. Not medical advice.