Anchondrogenesis is a rare and severe group of genetic disorders which results in a short trunk, small limbs and narrow chest. The condition occurs when a person’s body does not produce enough growth hormone which results in cartilage and done to not develop properly.
The genetic condition is characterised by abnormalities in the skeletal system. There are chances that you would have a child with this disorder if both you and your partner carry this gene. Infants born with the condition are unable to breathe properly, and may not live without intensive medical support.
There are three forms of achondrogenesis – type 1A, type 1B and type 2. These types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. However, you cannot distinguish between them without genetic testing.
Also referred to as Houston-Harris type, Achondrogenesis type 1A is the least understood of the three forms. It affects infants and they have extremely short limbs, a narrow chest, short ribs that fracture easily and soft skull bones. Moreover, there is a lack normal bone formation (ossification) in the spine and pelvis.
Also referred to as the Parenti-Fraccaro type, Achondrogenesis type 1B is characterised by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may be rotated inwards. Furthermore, infants may have a soft out-pouching around the belly-button (an umbilical hernia) or near the groin (an inguinal hernia).
Also referred to as Langer-Saldino type, Achondrogenesis type 2 is a genetic disorder that is characterised by short arms and legs, a narrow chest with short ribs, and underdeveloped lungs. Lack of ossification in the spine and pelvis, distinctive facial features include a prominent forehead, a small chin, and, in some cases, an opening in the roof of the mouth (a cleft palate).
As of now, there are no treatment options for this rare disorder and the care for the baby is focused on making the baby as comfortable as possible.
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