Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortened; the eyes also appear spaced more widely apart as a result, known as telecanthus.
In addition to small palpebral fissures, features can include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus.
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 corners of the eyelids). The nasal bridge is flat and there is a hypoplastic orbital rim.[1] It may also be associated with lop ears, ectropion and hypertelorism.
There are two known types, type 1 and type 2. Although research is limited, it is known that type 1 and 2 are expressed with the same symptoms mentioned above, but type 1 also has the characteristic of premature ovarian insufficiency (POI) in women, which causes menopausal symptoms in patients as young as 15 years old. This is due to the shortening of the FOXL2 gene.[2][3]
Historyedit
Vignes (1889) probably first described this entity, a dysplasia of the eyelids.[2]
^Grzechocińska, Barbara; Warzecha, Damian; Wypchło, Maria; Ploski, Rafal; Wielgoś, Mirosław (2019-07-31). "Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report". BMC Medical Genetics. 20 (1): 132. doi:10.1186/s12881-019-0865-0. ISSN 1471-2350. PMC6670140. PMID 31366388.
External linksedit
January 01, 1970
blepharophimosis, congenital, anomaly, which, eyelids, underdeveloped, such, that, they, cannot, open, usual, permanently, cover, part, eyes, both, vertical, horizontal, palpebral, fissures, eyelid, openings, shortened, eyes, also, appear, spaced, more, widely. Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes Both the vertical and horizontal palpebral fissures eyelid openings are shortened the eyes also appear spaced more widely apart as a result known as telecanthus Blepharophimosis18 year old female with blepharophimosis as a result of blepharophimosis ptosis epicanthus inversus syndrome BPES type 1SpecialtyMedical genetics Contents 1 Presentation 2 Associated conditions 2 1 Blepharophimosis ptosis epicanthus inversus syndrome 3 History 4 See also 5 References 6 External linksPresentation editIn addition to small palpebral fissures features can include epicanthus inversus fold curving in the mediolateral direction inferior to the inner canthus low nasal bridge ptosis of the eyelids and telecanthus Associated conditions editBlepharophimosis ptosis epicanthus inversus syndrome edit 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 corners of the eyelids The nasal bridge is flat and there is a hypoplastic orbital rim 1 It may also be associated with lop ears ectropion and hypertelorism There are two known types type 1 and type 2 Although research is limited it is known that type 1 and 2 are expressed with the same symptoms mentioned above but type 1 also has the characteristic of premature ovarian insufficiency POI in women which causes menopausal symptoms in patients as young as 15 years old This is due to the shortening of the FOXL2 gene 2 3 History editVignes 1889 probably first described this entity a dysplasia of the eyelids 2 See also editAnkyloblepharonReferences edit blepharophimosis www mrcophth com a b OMIM Entry 110100 BLEPHAROPHIMOSIS PTOSIS AND EPICANTHUS INVERSUS BPES omim org Retrieved 2019 12 27 Grzechocinska Barbara Warzecha Damian Wypchlo Maria Ploski Rafal Wielgos Miroslaw 2019 07 31 Premature ovarian insufficiency as a variable feature of blepharophimosis ptosis and epicanthus inversus syndrome associated with c 223C gt T p Leu75Phe FOXL2 mutation a case report BMC Medical Genetics 20 1 132 doi 10 1186 s12881 019 0865 0 ISSN 1471 2350 PMC 6670140 PMID 31366388 External links edit Retrieved from https en wikipedia org w index php title Blepharophimosis amp oldid 1188111776, wikipedia, wiki, book, books, library,
