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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.
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 ...
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
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 ...
Symptoms of the syndrome are intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, and keratoderma (MEDNIK). [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]
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.