We wish to alert the clinician to the diagnosis of bardetbiedl syndrome in. Selfmanagement laurence moon bardet biedl syndrome. Bbs type 9 is caused by a mutation in the bbs9 gene, which is also known as the b1 gene. A report on four cases of laurencemoonbiedlbardet syndrome. In 1866 doctors laurence and moon in england described four members of the same family who had retinal problems, unsteady gait and spinal cord problems, and developmental delays. About 90% of children with bardetbiedl or laurencemoon syndromes develop a detectable retinal disorder sometimes called retinitis pigmentosa rp or tapetoretinal dystrophy. Heart disease in the laurencemoonbiedlbardet syndrome. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Laurencemoonbardetbiedl syndrome by kristen mccormack. Inhabitants of canadian newfoundland and those belonging to the bedouin. The first known case was reported by laurence and moon in 1866 at the ophthalmic hospital in south london. Esta sindrome foi descrita pela primeira vez por laurence e moon em 1866 e outros casos foram descritos por bardet e biedl entre 1920 e 1922.
The signs and symptoms of this condition vary among. Bardetbiedl syndrome bardetbiedls syndrom svensk definition. Laurencemoonbiedlbardet syndrome are no longer considered as valid terms in that patients of laurence and moon had paraplegia but no polydactyly and obesity which are the key elements of the bardetbiedl the. Laurencemoonbardetbiedl syndrome lmbbs, molecular and medical genetics, prince philip research laboratories, guys hospital london laurencemoonbardetbiedl society, united kingdom bardet. The national organization for rare disorders nord web site, its databases, and the contents thereof are ed by nord.
Abstract bardetbiedl syndrome, a form of laurencemoonbardetbiedl syndrome is a rare inheritable disease characterized by the pentad of obesity, mental retardation, pigmentary retinopathy, polydactyly. Bardetbiedl syndrome symptoms, diagnosis, treatments and. Laurencemoonbiedl syndrome and laurencemoonbiedlbardet syndrome are no longer considered as valid terms in that patients of laurence and moon had paraplegia but no polydactyly and obesity which. Laurencemoonbiedlbardet syndrome is no longer considered as valid terms in that. The bardet biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the socalled. Psychology definition of laurencemoonbiedl syndrome.
A degenerative disorder characterized by a degree of obsety, below average intelligence, retina abnormalities, and extra fingers or toes. Bardetbiedl syndrome bbs, previously known as the laurencemoonbardetbiedl syndrome lmbbs, is a rare autosomal recessive hereditary condition. Bardetbiedl syndrome with end stage renal disease the family has had support from charity bardetbiedl. Vision loss is one of the major features of bardetbiedl syndrome. Early intervention can greatly improve speech delay 2. Handbook of genetic counselingbardet biedl syndrome2. Bardetbiedl syndrome bbs is an uncommon genetic disorder that affects multiple parts of the human body. This syndrome has been distinguished as a separate entity from laurencemoon syndrome. Bbs is basically a ciliopathic human genetic disorder affecting several parts of the body.
Loss of vision occurs as the lightsensing tissue at the back of the eye the retina gradually deteriorates. Pigmentary retinopathy due to bardetbiedl syndrome. 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. Previously diagnosed as laurencemoonbardetbiedl syndrome, this is now differentiated as laurencemoon syndrome or biedlbardet.
Bardet biedl syndrome family association nord national. Bardet biedl syndrome is a rare genetic disorder with highly variable symptoms which may include retinal degeneration, obesity, reduced kidney function. Bardetbiedl syndrome bbs is characterized by rodcone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female. Allan clark shares his story of raising two sons with bardet biedl syndrome, a condition that affects 1 in between 70100,000 people. Laurencemoonbiedl syndrome definition of laurencemoon. Handbook of genetic counselingbardetbiedl syndrome2. Donations to the bardetbiedl syndrome foundation will support research into treatment and care for people affected by bbs as well as education and outreach to families. Bardetbiedl syndrome medical definition merriamwebster. Bardetbiedl syndrome is a disorder that affects many parts of the body. Otolaryngologic features of laurencemoonbardetbiedl syndrome. Bardetbiedl syndrome laurencemoonbardetbiedl syndrome bardet biedl syndrome laurence moon bardet biedl syndrome. The topic laurencemoonbiedl syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition bardetbiedl syndrome. The signs and symptoms of bardetbiedl are variable, even within families, and.
Get a printable copy pdf file of the complete article 441k. No part of the nord web site, databases, or the contents may be copied in. It is primarily characterized by hypogonadism, retinitis, obesity. Regular optometry appointments create a plan of action for potential vision loss after a. The condition now known as the laurencemoonbiedl syndrome was first described by laurence and moon in the british journal of ophthalmology in 1866. The cardinal manifestations of bardetbiedl syndrome, a form of laurencemoonbiedl syndrome. This gene has activity in many tissues of the body, including the adult heart, skeletal.
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