Spondylocamptodactyly
Medical condition / From Wikipedia, the free encyclopedia
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.[1][2] It has been described in 5 members of a 3-generation Mexican family,[3][4] It is thought to be inherited in an either autosomal dominant or autosomal recessive with pseudodominance pattern.[5][6]
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Quick Facts Other names, Specialty ...
Spondylocamptodactyly | |
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Other names | Spondylocamptodactyly syndrome |
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 | - |
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