Camptomelic dysplasia
Encyclopedia
Camptomelic dysplasia is a genetic disorder
, camptomelic or campomelic refer to the bowing of the femur
and tibia
, (campto meaning bent and melia refers to the limbs
) commonly seen in this disorder.
A mutation in the gene
coding for the transcription factor Sox9
, localized to chromosome 17, results in camptomelic dysplasia, which is marked by anomalies of the rib
s and vertebral column
and bowing of the long bone
s. Sox9 controls transcription of Type II collagen and the proteoglycan aggrecan
, and is also related to sex reversal. Genetically male (XY) individuals appear phenotypically female, because SOX9 is not able to fulfill its role in sex determination (testis development).
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
, camptomelic or campomelic refer to the bowing of the femur
Femur
The femur , or thigh bone, is the most proximal bone of the leg in tetrapod vertebrates capable of walking or jumping, such as most land mammals, birds, many reptiles such as lizards, and amphibians such as frogs. In vertebrates with four legs such as dogs and horses, the femur is found only in...
and tibia
Tibia
The tibia , shinbone, or shankbone is the larger and stronger of the two bones in the leg below the knee in vertebrates , and connects the knee with the ankle bones....
, (campto meaning bent and melia refers to the limbs
Limb (anatomy)
A limb is a jointed, or prehensile , appendage of the human or other animal body....
) commonly seen in this disorder.
A mutation in the gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
coding for the transcription factor Sox9
SOX9
Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.- Function :SOX-9 recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins...
, localized to chromosome 17, results in camptomelic dysplasia, which is marked by anomalies of the rib
Rib
In vertebrate anatomy, ribs are the long curved bones which form the rib cage. In most vertebrates, ribs surround the chest, enabling the lungs to expand and thus facilitate breathing by expanding the chest cavity. They serve to protect the lungs, heart, and other internal organs of the thorax...
s and vertebral column
Vertebral column
In human anatomy, the vertebral column is a column usually consisting of 24 articulating vertebrae, and 9 fused vertebrae in the sacrum and the coccyx. It is situated in the dorsal aspect of the torso, separated by intervertebral discs...
and bowing of the long bone
Long bone
The long bones are those that are longer than they are wide. They are one of five types of bones: long, short, flat, irregular and sesamoid. Long bones, especially the femur and tibia, are subjected to most of the load during daily activities and they are crucial for skeletal mobility. They grow...
s. Sox9 controls transcription of Type II collagen and the proteoglycan aggrecan
Aggrecan
Aggrecan also known as cartilage-specific proteoglycan core protein or chondroitin sulfate proteoglycan 1 is a protein that in humans is encoded by the ACAN gene. This gene is a member of the aggrecan/versican proteoglycan family...
, and is also related to sex reversal. Genetically male (XY) individuals appear phenotypically female, because SOX9 is not able to fulfill its role in sex determination (testis development).