Hypochondroplasia

Hypochondroplasia is a form of short-limbed dwarfism. Like other forms of dwarfism, it occurs when a fetus is still in the womb and there is a problem related to the cartilage converting into bone. It is considered a milder form of dwarfism.

Causes

Hypochondroplasia is the result of a genetic mutation. 

Symptoms

Common signs and symptoms of hypochondroplasia are:

• Disproportionately small hands, feet, arms and legs
• Bowed legs that improve over time
• Rounding of the back
• Prominent forehead
• Mild intellectual disability

Diagnosis

Because this is a milder form of dwarfism, the condition is often not apparent at birth. It can go undetected until early childhood or as late as adulthood.

To determine if your child has hypochondroplasia, your expert doctor will conduct a physical examination, review medical history and perform X-rays.

See more information

Skeletal Dysplasia