Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism.
Alternative Names of Achondroplasia are: Dwarfism.
Complications of Achondroplasia
Fluid build up in the brain (hydrocephalus).
Causes of Achondroplasia
Achondroplasia is one of a group of disorders called chondrodystrophies or osteochondrodysplasias.
Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%.
However, most cases appear as spontaneous mutations. This means that two parents without achondroplasia may give birth to a baby with the condition.
Signs & Symptoms of Achondroplasia
Typical appearance of achondroplastic dwarfism is apparent at birth:
Short limbs, proximal extremity (upper arm and thigh)
Large appearing head
Skeletal (limb) abnormalities
Abnormal hand appearance (trident hand) with persistent space between the long and ring fingers