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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.
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 ...
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]
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.
Viljoen–Kallis–Voges syndrome, also known as microcephaly-brachydactyly-kyphoscoliosis syndrome, is a very rare genetic disorder which is characterized by severe intellectual disabilities, microcephaly, low height/short stature, brachydactyly type D, flat occiput, down-slanting palpebral fissures, low-set prominent ears, a broad nose, and kyphoscoliosis.
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]
It includes complete total absence of the anterior nasal spine. There are also associated anomalies of muscle insertions of the upper lip and the nasal floor and of the cervical spine. Affected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge.