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Achondroplasia is known as a bone growth disorder that is responsible for the dwarfism. Achondroplasia symptoms and signs are usually obvious at birth, so that the diagnosis is not that difficult to establish. There are several obvious signs of this genetic problem and the most frequent are the following: short limbs and proximal extremity, big head, abnormalities that refer to the skeletal limb, trident hand, bowed legs, prominent forehead, and some other problems. The most important aspect that may contribute to this affection is having someone in the family history who suffered from this condition. That is why the genetic factor is relevant in the likeliness of this condition to appear.

Among the relevant aspects of the achondroplasia, there is the large or big head, disproportionate for the body. This aspect is obvious from the very birth of the child; therefore, this aspect may draw the attention of the doctor. Some other important signs of the achondroplasia are the abnormalities regarding the skeletal limb, be it the case of some defects of the skeletal structure in general or some problems in the skeletal structure of arms and legs. One possible problem may be the so-called trident hand – the hand looks different because of the space between the long and ring fingers. Short limbs may be another problem of the children that suffer from this affection.

The prominent forehead is another important sign of the achondroplasia and this symptom is called frontal bossing. Other different aspects as lordosis and kyphosis are also considered relevant symptoms of the achondroplasia. These two aspects are related with the state of the spine (a spinal deformity) and present curvatures, causing problems – hunchback, slouching posture. Kyphosis may appear later and may not be obvious at birth; moreover, the appearance of this problem at birth is not common. Lordosis is also called swayback and in the cases when it is a sign of the achondroplasia lordosis is marked more.

Hypotonia is another aspect that may draw the attention of the doctors. This aspect may be easily explained by the decreases muscle tone and may be the sign of a genetic problem, of a dysfunction of the central nervous system. A special aspect that may not be necessary a sign of the achondroplasia is the short stature, as there are cases when the short stature is the sign common in the family and does not necessarily imply genetic disorders. In other cases, the short stature may be a treatable medical condition so that there is a possibility of treating this aspect.

There is also another sign of the achondroplasia before the baby is born and this sign refers to the presence of too much amniotic fluid that surrounds the baby – this problem is called polyhydramnios. This excessive presence of the amniotic fluid is usually regarded as the sign of some abnormalities concerning the health of the fetus. The common reason for this problem is the incapacity of the fetus to absorb the amniotic fluid in normal and needed amounts. This aspect is important to discover during the pregnancy period due to the regular consultations, as it may help preventing later complications. The main advice is to deliver the baby in a hospital that has specialists capable of discovering the affection and applying the necessary treatment.

Being given the fact that in some cases achondroplasia appears in families where this affection has never been present, its prevention is not possible all the times. Nevertheless, some aspects of the pregnancy period may point attention to some disorders and may help in discovering the right diagnosis and in applying the right treatment of this affection. Other physical aspects that may be obvious at birth or may develop later may also help in the establishment of this condition.

 
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