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Short nose
- ... point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep ...
- ... the digit. Other signs and symptoms include abnormally short middle ... such as a broad nose and thin lips. In addition, affected individuals can ...
- ... ends of bones and is present in the nose and external ears. ... is characterized by extremely short limbs, a narrow chest, short ribs that fracture ...
- ... ends of bones and is present in the nose and external ears.Type IX collagen is made ... Condition alpha 1 type IX collagen cartilage-specific short collagen collagen IX, alpha-1 polypeptide collagen type ...
- ... identified in people with a disorder called bifid nose, renal agenesis, and anorectal malformations syndrome, sometimes called ... tissues, resulting in the cleft nasal cartilage (bifid nose), missing kidneys (renal agenesis), narrowed or misplaced anal ...
- ... and the cartilage that is present in the nose and external ears. Type II collagen is particularly ... achondrogenesis type 2. These disorders are characterized by short bones in the arms and legs, a small ...
- ... ends of bones and is present in the nose, airways, and external ears.Aggrecan attaches to the ... elbows, hips, or ankles. Other common features are short stature and early development of a painful joint ...
- ... the middle of the face, particularly affecting the nose, which leads to openings (clefts) in the nose. This abnormal development can also interfere with the ...
- ... ends of bones and is present in the nose and external ears.The C6ST-1 enzyme modifies ... mutations result in the production of an abnormally short version of the enzyme. Each of these genetic ...
- ... ends of bones and is present in the nose and external ears. Type XI collagen is also ... the protein is made, resulting in an abnormally short pro-alpha1(XI) chain. All of these changes ...