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Results 1 - 10 of 10 for Hypoplasia of the nasal bone
  1. HSPG2 gene 
    ... contraction (myotonia) that restricts movement, as well as bone abnormalities known as chondrodysplasia. Most of the mutations reduce the amount of perlecan that is produced. Other mutations lead to a version ... bone tissue, which underlies chondrodysplasia in affected individuals. A ...
    https://medlineplus.gov/genetics/gene/hspg2 - Genetics
  2. CHST3 gene 
    ... related skeletal dysplasia, a condition characterized by progressive bone and joint abnormalities. Most of the mutations change single protein building ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics
  3. COL11A2 gene 
    ... associated with Weissenbacher-Zweymüller syndrome, a disorder of bone growth characterized by skeletal abnormalities, hearing loss, and distinctive facial features. These signs ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  4. RUNX2 gene 
    ... and brachydactyly (MDMHB). This condition is characterized by abnormalities near the ends of long bones (metaphyses), an underdeveloped upper jawbone (maxilla), and short ...
    https://medlineplus.gov/genetics/gene/runx2 - Genetics
  5. COL2A1 gene 
    ... legs, a small chest with underdeveloped lungs (lung hypoplasia), and a lack of normal bone formation (ossification) in the spine. Affected individuals typically ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  6. COL11A1 gene 
    ... continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also ... people with fibrochondrogenesis type 1, a disorder of bone growth characterized by severe skeletal abnormalities, hearing loss, and vision loss. Infants with fibrochondrogenesis ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  7. SLC26A2 gene 
    ... continues to cover and protect the ends of bones and is present in the nose and external ears.Cartilage cells use sulfate ions ... and in early childhood, SLC26A2 gene mutations prevent bones from developing ... skeletal abnormalities seen in achondrogenesis type 1B. More About This ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  8. PAX3 gene 
    ... of PAX3 protein function disrupts development of certain bones and muscles, producing abnormalities of the arms and hands in people with ...
    https://medlineplus.gov/genetics/gene/pax3 - Genetics
  9. TRIP11 gene 
    ... continues to cover and protect the ends of bones and is present in the nose and external ears. Several variants (also called mutations) ... that fracture easily, and a lack of normal bone formation (ossification) in the ... abnormalities, and infants with achondrogenesis usually die before or ...
    https://medlineplus.gov/genetics/gene/trip11 - Genetics
  10. ALX4 gene 
    ... cannot function normally, leading to a lack of bone in areas of the skull and ... as genital abnormalities in males, hair loss (alopecia), and enlarged parietal ...
    https://medlineplus.gov/genetics/gene/alx4 - Genetics