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Delleman syndrome or ocular- cerebral- skin syndrome is a congenital disease whose diagnosis can be made since the birth.
Children with this syndrome are multi malformed, featuring mainly brain abnormalities, focal dermal hypoplasia and orbital cyst. Triad depicted is characteristic of the syndrome, some patients may also have defects in the skull, the chest, urogenital anomalies and various craniofacial cracks.
The events are represented by appearance of eye bags with fluid or semisolid content in orbits, that cause wrong position of the eyeballs and associated structures. Eye of the affected area is much smaller than normal (microphthalmia).
Brain defects are the abnormal ventricular system in the median region of the skull, the absence of neural structures with a role in connecting the 2 hemispheres (agenesis calos body), brain cysts (frequently appear as arachnoid malformations or are located in the posterior fossa skull), hydrocephalus, meningo encephalocele. Patients may have varying degrees of mental retardation and may have seizures.
Modifications of skin are mainly characterized by the existence of areas where skin is missing or poorly developed (aplasia or dermal focal hypoplasia ), alternating with regions in which appear skin folds of brown or red color(hyperpigmentation) especially around the eyelids (especially on the edges of the side) , or on the cheeks. The condition does not appear to be transmitted hereditary, but is rather a result of spontaneous mutation in the absence of etiologic agents clearly determined.
Delleman Syndrome is a condition that occurs at birth. Infants are born with cysts in the eye cava ties, brain abnormalities and skin tags (areas of skin that protrude, may be small or large in size and usually fall of after a few days to weeks). It is also known as oculocerebrocutaneous syndrome. The disorder is very rare. Infants and children with this disorder may have mental retardation and seizures which are due to irregular brain patterns. The disorder appears not to be genetic but appears randomly in a population. The March of Dimes helps perform research on the disorder.
Delleman syndrome can also be known as Oculocerebrocutaneous syndrome. It is a rare genetic disorder found in birth and has mainly brain, eye, and skin malfunctions. Based on the eye, in many cases the eye on one side would be too small or smaller than the other eye. There can also be swellings associated with this disease.
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