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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 ...
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 ...
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.
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
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] Dystopia canthorum is associated with ...
Al-Gazali-Donnai-Mueller syndrome, also known as Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features syndrome [1] is a rare and deadly genetic disorder which is characterized by Hirschsprung's disease, nail and distal limb hypoplasia, flat facies, upslanting palpebral fissures, narrow philtrum, high palate, micrognathia and low-set ears.
Binder's syndrome, Binder syndrome or maxillo-nasal dysplasia is a developmental disorder primarily affecting the anterior part of the maxilla and nasal complex (nose and jaw). It is a rare disorder and the causes are unclear. The characteristics of the syndrome are typically visible.
Patients typically have petite frames, a short neck, and a distinctive stance. They may have mild microcephaly, a round, flat, expressionless face, a broad, flat nasal bridge, horizontal palpebral fissures, epicanthal folds, strabismus, and ptosis of the eyelids. The syndrome can lead to muscle hypotonia and a