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Ohdo syndrome
Background
Ohdo syndrome: Ohdo Blepharophimosis syndrome
Ohdo and his colleagues from Japan first described two sisters and a cousin with learning disabilities associated with congenital heart disease, blepharophimosis (small eye openings), blepharoptosis (drooping eyelid) and small teeth. Following this report, doctors from various countries have described children with similar problems. All the reports, apart from those in the original report, have concerned single affected children without any family history.
There are clinical similarities to BPES syndrome (Blepharophimosis-Ptosis-Epicanthus Inversus syndrome), now known to be due to a gene change or deletion but Ohdo patients do not have these changes. The condition called Young-Simpson syndrome is so similar that many doctors consider them to be the same.
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