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Results 1 - 10 of 35 for chondrodysplasia
  1. 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 ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-1 - Genetics
  2. Rhizomelic chondrodysplasia punctata 
    Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  3. X-linked chondrodysplasia punctata 2 
    X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. ... condition vary widely, almost all affected individuals have chondrodysplasia punctata, an abnormality that appears on x-rays ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  4. Cartilage-hair hypoplasia 
    ... long bones in the arms and legs (metaphyseal chondrodysplasia), which then affects development of the bone itself. ... condition. Cartilage-hair syndrome CHH McKusick's metaphyseal chondrodysplasia syndrome Metaphyseal chondrodysplasia, McKusick type Metaphyseal chondrodysplasia, recessive ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  5. Schwartz-Jampel syndrome 
    ... muscle stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs and symptoms of this condition become ... usually in early childhood. Either muscle stiffness or chondrodysplasia can appear first. The muscle and bone abnormalities ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  6. CHST3-related skeletal dysplasia 
    ... spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. Recently, researchers have proposed the ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  7. Maffucci syndrome 
    ... cells do not. This situation is called mosaicism. Chondrodysplasia with hemangioma Chondroplasia angiomatosis Dyschondroplasia and cavernous hemangioma ...
    https://medlineplus.gov/genetics/condition/maffucci-syndrome - Genetics
  8. Atelosteogenesis type 1 
    ... their family. AOI Atelosteogenesis type I Giant cell chondrodysplasia Spondylohumerofemoral hypoplasia Genetic Testing Registry: Atelosteogenesis type I ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 - Genetics
  9. Mainzer-Saldino syndrome 
    ... the condition. Conorenal dysplasia Conorenal syndrome Mainzer-Saldino chondrodysplasia Mainzer-Saldino disease MZSDS Renal dysplasia, retinal pigmentary ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  10. Shwachman-Diamond syndrome 
    ... in their family. Congenital lipomatosis of pancreas Metaphyseal chondrodysplasia, Shwachman type SDS Shwachman syndrome Shwachman-Bodian syndrome ...
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome - Genetics
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