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Understanding Fraser Syndrome

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Understanding Fraser Syndrome SPECIAL NEEDS // Features Synonyms of Fraser Syndrome • Cryptophthalmos- Syndactyly Syndrome • Cryptophthalmos Syndrome • Cyclopism • Fraser-Francois Syndrome • Meyer-Schwickerath’s Syndrome • Ulrich-Feichtiger Syndrome Understanding Fraser Syndrome A look at how Fraser Syndrome – a rare, non- development of the kidney), skeletal larynx. Lack of kidney function or blockage treatment are often required for those # Ophanet, a consortium of European sex linked genetic disorder – causes anomalies and mental delay. of the larynx is usually the cause of death for surviving Fraser Syndrome-affected children. partners, currently defines a condition rare a wide range of abnormalities, those who are stillborn or die within the first Thanks to advances in genetic counselling when it affects one person per 2,000. particularly vision loss. Associated Symptoms year of infancy. technologies, medical professionals Due to multiple malformations of different 25% of affected infants are stillborn, nowadays find it more effective in carrying * A pattern of inheritance in which both body organs, a child with Fraser Syndrome while 20% die before the age of one out the diagnosis, prenatal treatment and copies of an autosomal gene must be Compilation: Leonard Lau and Yvonne Tan; Photo: stock.xchange is likely to suffer from at least partial visual, year from renal or laryngeal defects. If management of Fraser Syndrome. abnormal for a genetic condition or disease hearing or speech impairment, among other these anomalies are not present, the life Ultrasonographic diagnosis of the to occur. An autosomal gene is a gene A very rare# genetic disorder occurring in Syndrome (the syndrome has a recurrence symptoms. expectancy is almost normal. syndrome is now feasible at 18 weeks that is located on one of the non-sex less than one of every 100,000 births, Fraser risk of 25% among siblings) Another co-morbidity found in most Although complications of the Fraser gestation. It can be made if two of the chromosomes. When both parents have Syndrome was first described by a Canadian A child is diagnosed with Fraser children with Fraser Syndrome, intellectual Syndrome are manifested as secondary following signs are present: one abnormal copy of the same gene, they geneticist, C R Fraser, in 1962. Syndrome if he or she presents at least impairment is mainly caused by hydrocephaly conditions, symptoms or other disorders, • Microphthalmia - one eye being abnormally have a 25% chance with each pregnancy Inherited as an autosomal recessive* two of these four major characteristics. (an abnormal amount of water within the the distinction between symptoms and small that their offspring will have the disorder. genetic trait, the causative gene for Fraser Cryptophthalmos is present in 93% of cases, brain) or malformation (in some cases even complications is unclear or arbitrary in many • Syndactyly Syndrome (FRAS1) has recently been whereas syndactyly occurs in 54% of the absence) of one of the brain cavities. cases. • Enlarged echogenic lungs Sources: localised to 4q21. About 15% of cases were affected population. Abnormalities of kidneys, lungs and • Oligohydramnios - deficiency in amniotic • “Multiple Congenital Anomaly/Mental born to parents of the same lineage. The diagnosis is also arrived at when digestive system are also quite common Moving On fluid during pregnancy Retardation (MCA/MR) Syndromes: Fraser Affecting both sexes, Fraser Syndrome is the child has at least two major attributes in patients. Renal malfunctions in affected Fraser Syndrome is caused by specific gene Following clinical diagnoses, Syndrome”, Jablonski’s Multiple Congenital distinguished principally by these congenital and one minor attribute, or at least four minor infants may include improper development mutations, which alter the death of normal patients, parents and caregivers alike are Anomaly/Mental Retardation (MCA/MR) abnormalities: attributes. (dysplasia), underdevelopment (hypoplasia) cells to the extent of generating overgrowth of rendered proper support and assistance Syndromes Database • Cryptophthalmos - partial or complete Minor attributes include anomalies of the or absence of one or both kidneys (unilateral certain tissues, leading to fused eyelids and in comprehending the medical facts of the • National Organization for Rare Disorders fusion of the eyelids nose, ears (malformations of the middle and or bilateral renal agenesis). fused fingers or toes as mentioned above. syndrome, understanding the way heredity • Online Mendelian Inheritance in Man • Syndactyly - webbed fingers and/or toes outer ear that may result in hearing deficit) The most serious and life-threatening There is no known method of prevention contributes to it, and making the best possible • Orphanet • Genital malformations and larynx, oral clefts, umbilical hernia, abnormalities associated with Fraser except genetic counselling. adjustments to it. • TheFetus.net • A sibling who is also affected with Fraser renal agenesis (absence or incomplete Syndrome are those of the kidneys and the Surgery and other forms of corrective • WrongDiagnosis.com 20 // Metta News Vol 14 Issue 4 Metta News Vol 14 Issue 4 // 21.
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