10 COMMON DISEASES

CAUSES OF 10
COMMON SYMPTOMS

ACHONDROPLASIA

 
Subject Contents

Achondroplasia

 
Definition
An inherited disorder of bone growth that causes the most common type of dwarfism .
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Alternative Names

 
Causes, incidence, and risk factors
Achondroplasia is an inherited disorder of bone growth. It is one of the group of disorders that are collectively called chondrodystrophies or osteochondrodysplasias. The disorder causes a type of dwarfism that is recognized by its characteristic normal to large-sized head, shortened arms and legs (especially the upper arm and thigh), a normal-sized trunk, and waddling gait . Achondroplasia is the most common type of dwarfism. Achondroplasia is inherited as an autosomal dominant trait. However, the majority of cases, approximately 80%, appear as spontaneous mutations. 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%.
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Symptoms
Typical appearance of achondroplastic dwarfism is apparent at birth:
  • short stature
  • 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
  • marked
  • kyphosis and lordosis (spine curvatures)
  • waddling gait
  • prominent (conspicuous) forehead (
  • frontal bossing )
  • increased inward curve of lower back making the buttocks appear more prominent (lordosis)
  • increased outward curve of upper back making back appear slightly hunched (kyphosis)
  • head appears disproportionately large for body
  • hypotonia
  • polyhydramnios
  • (present when affected infant is born)
  • bowed legs
  • Notes: A family history of achondroplasia should alert parents to the possibility of having an affected child. Typical appearance of achondroplastic dwarfism is apparent at birth.
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    Signs and tests
    Examination of the infant shows increased front-to-back head size ( occipital-frontal circumference ). There may be signs of hydrocephalus associated with enlargement of the chambers within the center of the brain (ventricular dilatation). Tests that identify achondroplasia include: X-rays of the long bones (see bone X-ray ) can demonstrate achondroplasia in the newborn.
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    Treatment
    There is no specific treatment for achondroplasia. Associated orthopedic abnormalities such as club feet should be corrected.
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    Support Groups

     
    Expectations (prognosis)
    People with achondroplasia seldom reach five feet in height. Mentality is normal. Infants who are homozygous for achondroplasia (both parents are achondroplastic and each has contributed an affected gene ) seldom live beyond a few months.
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    Complications
  • hydrocephalus
  • club feet
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    Calling your health care provider
    Call for an appointment with your health care provider if you are planning to have children and there is a family history of achondroplasia.
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    Prevention
    Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. Because achondroplasia arises as a spontaneous mutation, absolute prevention is not possible.
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