A report on four cases of laurencemoonbiedlbardet syndrome. Laurencemoon is an inherited disorder affecting vision, kidneys and the pituitary gland. We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. Two unrelated children, less than 3 years of age with the laurencemoonbiedl syndrome are reported. Considerazioni su di una famiglia con retinosi pigmentaria e. A rare inherited disorder characterized by vision loss, impaired hormone production, mental retardation and spastic paraplegia.
In previous years, laurencemoonbardetbiedl syndrome lmbbs was a term used to describe an inherited genetic condition that affected approximately 1 in 100,000 babies born. Laurencemoon syndrome what is laurencemoon syndrome. Es werden funf patienten mit dem lmbbsyndrom ausfuhrlich beschrieben. The condition now known as the laurence moon biedl syndrome was first described by laurence and moon in the british journal of ophthalmology in 1866. All structured data from the file and property namespaces is available under the creative commons cc0 license. Laurence moon syndrome lms is a genetically predisposed disorder affecting both genders. However, timely symptomatic treatment ensures a good prognosis. Laurencemoon syndrome is a rare condition that affects many different parts of the body. Bardetbiedl syndrome bbs is a ciliopathic human genetic disorder that produces many effects and affects many body systems. However, it shows a higher rate of prevalence in the arab population.
Laurencemoon syndrome synonyms, laurencemoon syndrome pronunciation, laurencemoon syndrome translation, english dictionary definition of laurencemoon syndrome. Emphasis is placed on the possibility of diagnosis in infancy and childhood. Laurencemoonbiedl syndrome definition of laurencemoon. Owing to the variety of their combinations, each observer, influenced by his special interest in some particular phase of medicine as well as by chance, encounters certain sets of symptoms more frequently. It is associated with the presence of retinitis alterations pic. The pathogenesis of retinal dystrophy in bbs is unknown. It is named after the physicians john zachariah laurence and robert charles moon who provided the first formal description of the condition in a paper published in 1866. Journal of the neurological sciences 479 elsevier publishing company, amsterdam printed in the netherlands the syndrome of laurencemoonbardetbiedl and allied diseases in switzerland clinical, genetic and epidemiological studies d. Files are available under licenses specified on their description page. Em 1866,laurence e moon descreveram uma condicao genetica na qual os pacientes exibiam retardo mental, baixa estatura, hipogenitalismo. Night blindness is usually evident by age seven to eight years. Furthermore, signs and symptoms of laurencemoon syndrome may vary on an individual basis for each patient. The syndrome of laurencemoonbardetbiedl and allied. Treatment is based on the signs and symptoms present in each person.
This signs and symptoms information for laurencemoon syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of laurencemoon syndrome signs or laurencemoon syndrome symptoms. Diagnosis depends entirely on the clinical features. Laurence moon syndrome is incurable, and therefore, persists as a chronic condition. This syndrome was first described by laurencemoon in 1866, and bardet and biedl described additional cases between 1920 and 1922. Feb 24, 2015 laurence moon biedl syndrome and laurence moon biedlbardet syndrome are no longer considered valid terms, because the patients of laurence and moon had paraplegia, but no polydactyly or obesity, which are the main characteristics of bardetbiedl syndrome. The visual prognosis for children with bbs is poor. Emphasis is placed on the possibility of diagnosis in infancy and childhood, a time when some of the characteristic features. Bbs1, bbs2, bbs3, bbs4, bbs5, bbs6, bbs7, bbs8, bbs9, bbs10, bbs11, bbs12, bbs fritzz, bbs14 cep290que podem formar o bbsome ou as chaperonas. Laurencemoon syndrome is caused by changes mutations in the pnpla6 gene and is inherited in an autosomal recessive manner. A degenerative disorder characterized by a degree of obsety, below average intelligence, retina abnormalities, and extra fingers or toes. C91lfsx4 also known as c91fsx95, a common mutation in bbs10, that is present in 10% of individuals with bbs. Owing to the variety of their combinations, each observer, influenced by his special interest in some particular phase of medicine as well as by chance, encounters certain sets of symptoms more frequently than others. Laurencemoon syndrome synonyms, laurencemoon syndrome. Thank you for your interest in spreading the word about the bmj.
Congenital renal abnormalities in the laurencemoonbiedl. Three male siblings, two o whom had congenital heart disease, are discussed. Congenital renal abnormalities in the laurencemoonbiedl syndrome the laurencemoonbiedl syndrome lmbs has 5 classical signs, pigmentary retinopathy, polydactyly, hypogenitalism, obesity, and mental retardationwarkanyetal. Laurence moon biedl syndrome and laurence moon biedlbardet syndrome are no longer considered valid terms, because the patients of laurence and moon had paraplegia, but no polydactyly or obesity, which are the main characteristics of bardetbiedl syndrome. Until recently, laurencemoon syndrome has been associated with bardetbiedl syndrome but newer research determined that they are separate conditions. Laurencemoon syndrome lms is a genetically predisposed disorder affecting both genders. Laurencemoon syndrome lnms is a genetic condition that results in a complex association of problems that affect several different body parts. In 1866, laurence and moon described a family of four siblings with retinal dystrophy, obesity, spastic paraparesis and cognitive deficit.
It was named after the four doctors who initially described the symptoms of the syndrome. Laurence moon syndrome lms is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities. Until recently, laurence moon syndrome has been associated with bardetbiedl syndrome but newer research determined that they are separate conditions. Laurencemoon syndrome nord national organization for. Jul 14, 2003 bardetbiedl syndrome bbs is characterized by rodcone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. People with lnms may have difficulties with functions of the brain, eyes, ears, stomach, kidneys, hands and feet. Previously diagnosed as laurencemoonbardetbiedl syndrome, this is now differentiated as laurencemoon syndrome or biedlbardet syndrome, both rare genetic disorders with overlapping characteristics laurencemoon is a syndrome set of related attributes caused by a genetic mutation and characterized by the eye. Intellectual disability, hexadactyly, central diabetes insipidus, blindness usually by. Laurence moon bardetbiedl syndrome is an autosomal recessively inherited complex symptomatology, the main symptoms of which are obesity, polydactylism, mental retardation, hypogonadism. Laurencemoon syndrome is caused by changes mutations in the pnpla6. Laurencemoon syndrome symptoms, diagnosis, treatments and. Signs and symptoms vary but may include cerebellar.
In previous years, laurence moon bardetbiedl syndrome lmbbs was a term used to describe an inherited genetic condition that affected approximately 1 in 100,000 babies born. The condition now known as the laurencemoonbiedl syndrome was first described by laurence and moon in the british journal of ophthalmology in 1866. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and kidney failure in some cases. Learn more about laurencemoon syndrome from related diseases, pathways, genes and ptms with the novus bioinformatics tool. There may be some muscle spasticity and intellectual disability. World over, the disease is rare, affecting only 1 in 160,000 people. Synonyms for laurencemoon syndrome in free thesaurus. Laurencemoon syndrome genetic and rare diseases information. Electroretinography and diagnosis of the laurencemoonbardet. Historically, slower mental processing has also been considered a principal symptom but is. Pigmentary retinopathy due to bardetbiedl syndrome. Electroretinography and diagnosis of the laurencemoon. Associated with night blindness, hearing difficulties and hypogonadism small testicles and marked mental retardation. E executado nas familias e pode severamente danificar o sofredor.
Heart disease in the laurencemoonbiedlbardet syndrome. Laurencemoon syndrome is a rare genetic condition that affects many different organ systems in the body but is primarily associated with retinitis pigmentosa, progressive weakness and stiffness of the legs spastic paraplegia, and mental disabilities. Congenital renal abnormalities in the laurence moon biedl syndrome the laurence moon biedl syndrome lmbs has 5 classical signs, pigmentary retinopathy, polydactyly, hypogenitalism, obesity, and mental retardationwarkanyetal. More detailed information about the symptoms, causes, and treatments of laurencemoon syndrome is available below symptoms of laurencemoon syndrome. Two unrelated children, less than 3 years of age with the laurence moon biedl syndrome are reported.
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