Search results
Results From The WOW.Com Content Network
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 ...
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 suggested.
Treatment Thyroid hormone replacement, Speech therapy [ 3 ] 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 ...
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 .
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is a very rare genetic and congenital disorder which is characterized by blepharophimosis, ptosis, V-esotropia, foot syndactyly, extra-ocular and frontal muscles weakness, low height/short stature, prognathism, and synophrys.
Treatment depends on the type of ptosis and is usually performed by an ophthalmic plastic surgeon or a reconstructive surgeon specializing in diseases and eyelid problems. If the condition occurs in a child, the doctor will delay the surgery until the patient is 4 or 5 years old.
This remains undetermined at the present time. A recent study by Major et al. [5] reports that: Prematurity, family history or secondary ocular history, perinatal or gestational complications, systemic disorders, use of supplemental oxygen as a neonate, use of systemic medications, and male sex were found to be significant risk factors for infantile esotropia.
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").