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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 ...
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-intellectual disability syndrome: Kaufman oculocerebrofacial syndrome has an autosomal recessive pattern of inheritance. Symptoms: Arachnodactyly [1] Causes: Mutation in the UBE3B gene [2] Diagnostic method: Growth assessment, Thyroid function evaluation [3] [4] Treatment: Thyroid hormone replacement, Speech therapy [3]
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.
Most of the signs of MWS are present during the neonatal period. The most common signs at this state are multiple congenital joint contractures, dysmorphic features with mask-like face, blepharophimosis, ptosis, micrognathia, cleft or high arched palate, low-set ears, arachnodactyly, chest deformation as pectus, kyphoscoliosis and absent deep tendon reflexes are frequent minor malformations ...
The mechanism by which the bacteria causes symptoms of blepharitis is not fully understood and may include direct irritation of bacterial toxins and/or enhanced cell-mediated immunity to S. aureus. Staphylococcal blepharitis is caused by an infection of the anterior portion of the eyelid by Staphylococcal bacteria . [ 14 ]
Botulism can cause double or blurred vision, slurred speech, drooping eyelids and difficulty swallowing or breathing. As symptoms progress, the muscles become progressively weakened.
Signs and symptoms typically seen in this condition include: [2] The eyelid(s) may appear to droop. Droopy eyelids can give the face a false appearance of being fatigued, uninterested or even sinister. The eyelid may not protect the eye as effectively, allowing it to dry. Sagging upper eyelids can partially block the field of view.