A diagnosis of Larsen Syndrome can be devastating and if you are looking for simple to understand answers on the symptoms, description, genetic …
Continue ReadingHallervorden-Spatz Syndrome is a debilitating genetic disorder that strikes in early childhood and almost always leads to death before adulthood. …
Continue ReadingLysinuric protein intolerance is a genetic disorder in which the body is unable to break down certain amino acids. Individuals who have this …
Continue ReadingCornea plana congenita is an abnormality in the cornea of the eyes, associated with mutations in the KERA gene, with subtypes that vary based on the …
Continue ReadingLearn the causes of Cornelia de Lange syndrome and how it can influence human development. Notice the signs and symptoms while looking at treatment …
Continue ReadingAn extremely rare genetic and developmental disorder, Dubowitz syndrome is caused by a mutation in a gene that has yet to be identified. Read on to …
Continue ReadingGRACILE syndrome, a Finnish heritage disease, is a genetic metabolic disorder. This article discusses the symptoms, genetics, prevalence, prognosis …
Continue ReadingLearn about Langer-Giedion Syndrome, its symptoms, genetic testing, diagnosis, genetic inheritance and treatment or patient management of this …
Continue ReadingLoeys-Dietz Syndrome is a genetic disorder that causes many severe symptoms and growth and development defects. Read on to learn about this troubling …
Continue ReadingAlso known as hereditary progressive arthro-ophthalmopathy, Stickler’s syndrome is a genetic disorder that affects multiple parts of the body …
Continue ReadingSmith Lemli Opitz syndrome is a genetic disorder that causes numerous and diverse defects in those who suffer from it. Read on to learn more about …
Continue ReadingAlso known as constitutional hepatic dysfunction, Gilbert’s syndrome is a harmless genetic disorder affecting the metabolism of bilirubin in the …
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