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Combarros–Calleja–Leno syndrome
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Combarros–Calleja–Leno syndrome | |
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Other names | Freidreich's ataxia and congenital glaucoma |
Specialty | Medical genetics |
Causes | Suspected pleiotropy |
Prognosis | Medium |
Frequency | very rare, only 7 cases from a consanguineous Spanish family have been reported |
Deaths | - |
Combarros–Calleja–Leno syndrome is a very rare genetic disorder which is characterized by a combination of ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma. Additional findings include pes cavus and generalized areflexia. It has been described in 7 members from a consanguineous Spanish family.