Achondrogenesis
Achondrogenesis
Description
Achondrogenesis is a group of complex disorders that occurs as the most severe form of congenital chondrodysplasia (malformation of cartilage and bones). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis are born prematurely, stillborn or die before birth, are stillborn, or die soon after birth from respiratory failure. It at all they survive, it is for a short duration with the help of intensive medical support.
It may occur as type 1A, type 1B, and type 2 achondrogenesis. The types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. …show more content…
It is characterized by extremely short limbs, a narrow chest, short ribs that fracture easily, and a lack of normal bone formation (ossification) in the skull, spine, and pelvis.
Type 1B, also known as the Parenti-Fraccaro type, is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may turn inward and upward (clubfeet).
Type 2, also referred to as the Langer-Saldino type, have short arms and legs, a narrow chest with short ribs, and underdeveloped lungs. This condition is also associated with a 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). The abdomen is enlarged, and affected infants often have a condition called hydrops fetalis, in which excess fluid builds up in the body before
Description
Achondrogenesis is a group of complex disorders that occurs as the most severe form of congenital chondrodysplasia (malformation of cartilage and bones). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants with achondrogenesis are born prematurely, stillborn or die before birth, are stillborn, or die soon after birth from respiratory failure. It at all they survive, it is for a short duration with the help of intensive medical support.
It may occur as type 1A, type 1B, and type 2 achondrogenesis. The types are distinguished by their signs and symptoms, inheritance pattern, and genetic cause. …show more content…
It is characterized by extremely short limbs, a narrow chest, short ribs that fracture easily, and a lack of normal bone formation (ossification) in the skull, spine, and pelvis.
Type 1B, also known as the Parenti-Fraccaro type, is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may turn inward and upward (clubfeet).
Type 2, also referred to as the Langer-Saldino type, have short arms and legs, a narrow chest with short ribs, and underdeveloped lungs. This condition is also associated with a 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). The abdomen is enlarged, and affected infants often have a condition called hydrops fetalis, in which excess fluid builds up in the body before