Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa | |
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Specialty | Medical genetics |
Symptoms | Ocular, visual, dental and skeletal |
Usual onset | Birth |
Duration | Lifelong |
Causes | Genetic mutation |
Prevention | none |
Prognosis | Good |
Frequency | very rare, only 2 cases have been described in medical literature |
Deaths | - |
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa is a very rare genetic disorder which is characterized by ocular/visual, dental and osseous anomalies. Only 2 cases have been described in medical literature. [1]
The following is a list of symptoms that this disorder causes: [2] [3] [4]
This condition was first described in 2006 by Megarbane et al. when they described 2 cousins from a consanguineous Labenese family. Only one of them had amelogenesis imperfecta. [5]
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa | |
---|---|
![]() | |
Specialty | Medical genetics |
Symptoms | Ocular, visual, dental and skeletal |
Usual onset | Birth |
Duration | Lifelong |
Causes | Genetic mutation |
Prevention | none |
Prognosis | Good |
Frequency | very rare, only 2 cases have been described in medical literature |
Deaths | - |
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa is a very rare genetic disorder which is characterized by ocular/visual, dental and osseous anomalies. Only 2 cases have been described in medical literature. [1]
The following is a list of symptoms that this disorder causes: [2] [3] [4]
This condition was first described in 2006 by Megarbane et al. when they described 2 cousins from a consanguineous Labenese family. Only one of them had amelogenesis imperfecta. [5]