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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.
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 ...
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 ...
Aponeurotic and congenital ptosis may require surgical correction if severe enough to interfere with the vision or if appearance is a concern. 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.
Short stature, minor congenital anomalies, facial dysmorphisms, muscle weakness, blepharophimosis, and ptosis 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 ...
Source [10] There are currently no known treatments for Ohdo syndrome, SBBYS variant. Management of the syndrome includes regular follow-up based on current complications of the patient and requires specific examinations (pediatric, cardiological, audiometric, orthopedic, neuropsychiatric, ophthalmological, and genetic).
Blepharochalasis is an inflammation of the eyelid that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins.