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The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. Explore symptoms, inheritance, genetics of this condition.
Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Read More
Blepharophimosis-intellectual disability syndrome, Ohdo type. Suggest an update. Disease definition. A multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Ohdo syndrome. Also known Blepharophimosis-intellectual disability syndrome, Ohdo type, it is a very rare type of BIDS that is characterized by blepharophimosis, ptosis, intellectual disabilities, hearing loss, and underdevelopment of teeth. Autosomal recessive, dominant, X-linked recessive, and mitochondrial inheritance patterns have been ...
BPES is a clinical syndrome that involves blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Horizontal shortening of palpebral fissure: Normal horizontal palpebral fissures measure 25-30mm; in BPES, the palpebral fissures measure 20-22mm (see red lines below). Ptosis: Upper eyelid droopiness resulting in vertical narrowing of ...
Disease Overview. Blepharophimosis intellectual disability syndromes refers to a group of syndromes, including Ohdo syndrome and Say Barber Biesecker Young-Simpson syndrome, that are characterized by narrow eye openings (blepharophimosis), drooping of the upper eye lids (ptosis) and intellectual disability.
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What is Ohdo Blepharophimosis syndrome?
Does Ohdo syndrome overlap with blepharophimosis ptosis-epicanthus inversus syndrome?
What are blepharophimosis intellectual disability syndromes?
OHDO syndrome − Say/Barber/Biesecker Type. Also known as: Ohdo Blepharophimosis Ohdo and his colleagues from Japan first described two sisters and a cousin with learning disabilities (see entry Learning Disability) associated with congenital heart disease, blepharophimosis (small eye openings), blepharoptosis (drooping eyelids) and small teeth.
