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Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, which is an autosomal dominant condition characterised by blepharophimosis, ptosis (upper eyelid drooping), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid) and telecanthus (widening of the distance between the inner ...
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare medical anomaly characterized by the conditions it is named after: blepharophimosis, ptosis and epicanthus inversus. There are two types; type 1 is distinguished from type 2 by including the symptom of premature ovarian insufficiency (POI) in females, which causes ...
Ptosis, also known as blepharoptosis, [1] is a drooping or falling of the upper eyelid.This condition is sometimes called "lazy eye", but that term normally refers to the condition amblyopia.
In 1916, Dutch ophthalmologist Jan van der Hoeve (1878–1952) described a pair of twin girls with deafness and a particular type of blepharophimosis, believed to be the dystopia canthorum found in Waardenburg syndrome types 1 and 3. [8] [35] Blepharophimosis describes eyelids which are underdeveloped such that they permanently cover part of ...
Drooping eyelids [3] Downward slanting palpebral fissures (separation between upper and lower eyelids) [3] Nearsightedness [4] Epicanthal folds (skin folds of the upper eyelid covering the inner corner of the eye) [6] Blepharophimosis (bilateral ptosis with reduced size of eyelid) [6] Optic atrophy [6] Refractory errors [6]
Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, [2] [3] highly arched eyebrows, and hypertelorism. [ 3 ] [ 4 ] People with Michels syndrome vary in other symptoms such as asymmetry of the skull , eyelid , and anterior chamber anomalies, cleft lip and ...
Telecanthus comes from the Greek word τῆλε (tele, "far") and the latinized form of the Greek word κάνθος, (kánthos, meaning 'corner of the eyelid'. Dystopia canthorum comes from the Greek δυσ - (dus-, “bad”) and τόπος (tópos, “place”) and the latinized Greek word κάνθος, adapted to latin morphology canthorum ("of the canthi").
Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.