Achondrogenesis - Some Facts To Be Aware Of

Achondrogenesis - Some Facts To Be Aware Of

Achondrogenesis is nothing, but a rare and severe genetic disorder that results in narrow chest, small limbs and short trunk. This condition happens when the body of an individual does not produce enough growth hormone that results in inadequate development of cartilage.

This genetic disorder is generally characterized by abnormalities in the skeletal system and in the case of parents with this disorder in their gene, there are greater chances that the child will also have this problem. In the case of infants born with this condition, they will not be in a position to breathe properly and they will be in need of intensive medical support for normal breathing.

Types:

This condition is classified into three types, namely; Type 1A, 1B and type 2. These types are classified on the basis of their symptoms and signs, genetic cause and inheritance pattern. But, it will not be possible to differentiate between them without genetic testing.

Type 1A:

This type is otherwise referred to as Houston-Harris type and it is stated to be the least understood of the other types of this disorder. When it affects infants, they will have very soft skull bones, short ribs that can easily fracture, narrow chest and extremely short limbs. In addition, there will be lack of bone formation in the pelvis and in the spine.

Type 1B:

This type is also called as Parenti-Fraccaro Type and in this type; there will be narrow chest, short limbs, apart from round stomach under this type. The feet might be rotated inwards and the fingers and toes will be very short. In addition, infants will have soft out-pouching near the groin or around the belly button.

Type 2:

Otherwise referred to as Langer-Saldino type, this kind of this condition is also a genetic disorder that is characterized by narrow chest, short legs and arms and underdeveloped lungs. There will be inadequate ossification in the pelvis and in the spine. Apart from these things, patients with this type will have distinctive facial features like a prominent forehead, small chin and even some of them will have the cleft lip disorder as well.

When it comes to treatment options for this condition, there is actually no treatment and the doctors generally will pay attention towards making the baby born with this health issue as comfortable as possible.

As this condition can affect the cartilage and bone development, infants with this condition generally die before birth, while some lose their life immediately after birth. Some infants also live for some time after birth with the help of medical support and aids.

It is, generally, not easy to identify whether this condition is inherited or not. If an individual thinks whether it runs in his family, it is better to consult with a genetic professional, who can study the family history and can identify the genetic association. These professionals will generally inquire about the health conditions of the people from several generations of the family, generally, first, second and third degree relatives.

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