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Spondylocamptodactyly
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    Spondylocamptodactyly

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    Spondylocamptodactyly
    Other names Spondylocamptodactyly syndrome
    Autosomal dominant and recessive.svg
    It remains unclear whether this disorder is inherited in an autosomal dominant or autosomal recessive manner.
    Specialty Medical genetics
    Symptoms Skeletal anomalies
    Causes Autosomal dominant/recessive with pseudodominance inheritance
    Risk factors unknown
    Prevention none
    Prognosis Good
    Frequency very rare, only 5 cases from a single 3-generation family have been reported.
    Deaths -

    Spondylocamptodactyly, also known as Spondylocamptodactyly syndrome, is a very rare multi-systemic genetic disorder which is characterized by the presence of camptodactyly, flattened vertebrae and thoracic scoliosis of varying degrees. It has been described in 5 members of a 3-generation Mexican family, It is thought to be inherited in an either autosomal dominant or autosomal recessive with pseudodominance pattern.



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