Search results
Results from the WOW.Com Content Network
Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.
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.
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.
Downward slanting palpebral fissures (separation between upper and lower eyelids) [3] Nearsightedness [4] Epicanthal folds (skin folds of the upper eyelid covering the inner corner of the eye) [6] Blepharophimosis (bilateral ptosis with reduced size of eyelid) [6] Optic atrophy [6] Refractory errors [6]
Affected individuals have dysmorphic features, with macrodolichocephaly, downslanting palpebral fissures and a pointed chin. The facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers, and have an unusually large skull and large head.
Get AOL Mail for FREE! Manage your email like never before with travel, photo & document views. Personalize your inbox with themes & tabs. You've Got Mail!
Downslanting palpebral fissures Other features may include loose skin, thin deep-set nails, thin hair, short ribs, limited elbow and knee extension, camptodactyly , and a coarse, low-pitched voice. Delayed development of motor skills such as sitting, standing, and walking are commonly exhibited in early childhood.
According to the documents these symbols are indicative of advertisement methods used by child sexual predators to promote their cause and advocate for the social acceptance of sexual ...