Spondylocamptodactyly | |
---|---|
Other names | Spondylocamptodactyly syndrome |
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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. [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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cite web}}
: CS1 maint: numeric names: authors list (
link)
Spondylocamptodactyly | |
---|---|
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 | - |
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]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)