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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 ...
The fissure may be increased in vertical height in Graves' disease, which is manifested as Dalrymple's sign. It is seen in disorders such as cri-du-chat syndrome. In animal studies using four times the therapeutic concentration of the ophthalmic solution latanoprost, the size of the palpebral fissure can be increased. The condition is reversible.
A flat nasal bridge can be a sign of Down syndrome (Trisomy 21), Fragile X syndrome, 48,XXXY variant Klinefelter syndrome, [2] or Bartarlla-Scott syndrome. An appearance of a widened nasal bridge can be seen with dystopia canthorum , which is a lateral displacement of the inner canthi of the eyes. [ 3 ]
Ocular abnormalities include small discs, pale discs, disc excavation, strabismus and latent nystagmus. Other features of this condition are somewhat variable and include: Facial indicators Protruding ears; Helical anomalies; Small nasal ridge; High nasal bridge; Upturned nose; Epicanthal folds; Upslanting palpebral fissures; Skeletal ...
Important traits include a round, flat, and expressionless face, a broad, flat nasal bridge, horizontal palpebral fissures, epicanthal folds, strabismus, and, when present, mostly ptosis of the eyelids. Ptosis may need to be surgically corrected and can be unilateral or bilateral.
Other common findings include hypotonia, a round face with full cheeks, epicanthal folds, down-slanting palpebral fissures (eyelids), strabismus, flat nasal bridge, down-turned mouth, low-set ears, short fingers, single palmar creases and cardiac defects (e.g., ventricular septal defect [VSD], atrial septal defect [ASD], patent ductus ...
Features of this condition include, by area affected: [1] [3] Head or neck: convex nasal ridge, delayed tooth eruption, dental crowding, dental malocclusion, depressed nasal bridge, downslanted palpebral fissures, flat forehead, high forehead, high palate, mandibular prognathia, midface retrusion, narrow palate, sloping forehead, supernumerary teeth, and wide nose
Distinctive facial features associated with idic(15) - where present at all - are usually very subtle but may include epicanthal folds (skin folds at the inner corners of one or both eyes), downward slanting palpebral fissures, broad forehead, a flattened nasal bridge, button nose, and a high arched palate (roof of the mouth).