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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 ...
[2] [3] People with MEDNIK syndrome often have a high forehead, upslanting palpebral fissures, a depressed nasal bridge, low-set ears, growth retardation, and brain atrophy apparent upon imaging. [4] The disorder was discovered by Patrick Cossette and his research team from the Université de Montréal.
Trigonocephaly-bifid nose-acral anomalies syndrome is a very rare genetic disorder which is characterized by trigono brachycephaly, narrow forehead, up-ward slanting palpebral fissures, bulbous, slightly bifid nose, macrostomia, thin upper lip, macrognathia (facial dysmorphisms), broad thumbs, rather large toes, broad fingertips with short nail beds, joint hypermobility and fifth finger ...
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]
2p15-16.1 microdeletion is an extremely rare genetic disorder caused by a small deletion in the short arm of human chromosome 2. First described in two patients in 2007, [1] by 2013 only 21 [citation needed] people have been reported as having the disorder in the medical literature. [2] [3] [4] [5]
Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. [6] [7]
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.