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Achondrogenesis

Overview

This condition is characterized by an abnormal skeleton, which causes abnomailities in the bone. The person has a short stature and short limbs due to decreased formation of cartilage. There are two types of achondrogenesis:
*Type I is autosomal recessive, its subtype IB has a defect in the Diastrophic dysplasia sulfate transporter(DDST) gene.
*Type II is autosomal dominant and is due to the mutation in the COL2A1 gene for the collagen type II.
Such complications of the disease can have fatal results; it can lead to still birth death of an infant born with this complication, means that the foetus dies in the uterus or soon before the delivery. The death of the foetus is caused due to failure in respiration. This condition can occur in 1 out of 40,000 infants.


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Causes

Achondrogenesis is due to change in genetics. The gene which causes the defect is the synthesis of collagen type II, also called cartilage collagen or COL2A1. This is responsible for the achondrogenesis type II, while the defect in the DDST gene is responsible fo the type I achondrogenesis. Achondrogenesis type II is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition.


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Signs & Symptoms

The following symptoms have been seen in this disorder:

Soft tissue begins to appear like fat, in a relatively short skeleton. This is called as anasarca.
Short arms and legs
Lack of ossification in spine and pelvis which can cause inguinal hernias due to the presence of potential space.
Prominent forehead
Small chin
Narrow chest and hence undeerdeveloped limbs
Abdomen is enlarged
Small nose with severly anteverted nose.

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Prevention

Since it is a genetic disorder, genetic counselling can be helpful. But, there is no known prevention.


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Treatments
Genetic counselling Psychotherapy

No treatment is available for this disorder. Genetic counselling should be done if a couple has one affected child; there are chances that the reoccurence rate will be 25% in the case of type I as it is recessive, while in type II the rate will be high as the disease is autosomal dominant.

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