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What body systems does achondroplasia affect?

What body systems does achondroplasia affect?

Achondroplasia is a genetic disorder affecting bone development that results in short-limb dwarfism. Achondroplasia is the most common form of short-limb dwarfism, a disorder in which bone tissue does not develop properly, especially the long bones of the arms and legs.

How does dwarfism affect the nervous system?

The stunted bone growth at the base of the skull and the spine can cause the spinal cord and brain stem to become compressed. This can lead to key nervous system structures — like the brain stem, spinal cord, spinal nerve roots and cerebrospinal fluid (CSF) spaces — to also compress.

What are the symptoms health impacts of achondroplasia?

Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In childhood, individuals with the condition usually develop a pronounced and permanent sway of the lower back (lordosis ) and bowed legs.

Can you detect dwarfism on an ultrasound?

Doctors are able to diagnose most cases of achondroplasia even before birth by doing an ultrasound in the later stages of pregnancy. The ultrasound can show if a baby’s arms and legs are shorter than average and if the baby’s head is larger.

Are there any health problems associated with achondroplasia?

People with achondroplasia are generally of normal intelligence. Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections.

What are the physical characteristics of achondroplasia dwarfism?

Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence.

Where does achondroplasia occur in the human genome?

All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia. Most people who have achondroplasia have average-size parents. In this situation, the FGFR3 gene mutation occurs in one parent’s egg or sperm cell before conception.

When does cartilage turn into bone in achondroplasia?

During early fetal development, much of the skeleton is made up of a strong, flexible body tissue called cartilage. As the fetus grows, this cartilage becomes bone. In achondroplasia, the body has a problem turning cartilage into bone, especially in the long bones of the arms and legs.