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Results 1 - 10 of 167 for Cartilage development disorder
  1. Atelosteogenesis type 2 
    Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2 - Genetics
  2. Diastrophic dysplasia 
    Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain (osteoarthritis) and ...
    https://medlineplus.gov/genetics/condition/diastrophic-dysplasia - Genetics
  3. X-linked chondrodysplasia punctata 1 
    X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone development that occurs almost exclusively in males. Chondrodysplasia punctata is an abnormality that appears on x-rays as spots (stippling) near the ends of ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-1 - Genetics
  4. Multiple epiphyseal dysplasia 
    Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  5. Achondrogenesis 
    Achondrogenesis is a group of severe disorders that affect cartilage and bone development. These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a result of serious health problems, infants ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  6. SLC26A2 gene 
    ... in people with atelosteogenesis type 2, another severe disorder of cartilage and bone development. Affected individuals typically have a mutation in one ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  7. COL9A1 gene 
    ... found to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that primarily affects the ends of the long ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  8. COL9A2 gene 
    ... shown to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that primarily affects the ends of the long ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  9. ARSL gene 
    ... responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage development that occurs almost exclusively in males. Between 60 ...
    https://medlineplus.gov/genetics/gene/arsl - Genetics
  10. Sanfilippo Syndrome (For Parents) (Nemours Foundation)  
    ... heparan sulfate, genetic disorders, metabolic disorders, metabolism, mental development, organ damage, behavioral problems, cartilage, lysosomal storage disorders, lysosome
    https://kidshealth.org/en/parents/sanfilippo-syndrome.html - External Health Links
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