Disease Information for Laurence-Moon-Biedel syndrome

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Clinical Manifestations
Signs & Symptoms
Delayed male adolescence/pubescence
Genital Hypoplasia/Male
Penis, small (Micropenis)
Scrotum small
Undescended testicles
Mental Deficiency Child
Weight gain
Bilateral Vision Loss
Narrow Palpebral Fissures
Visual Problems
Clinical Presentation & Variations
Presentation/Obese Retarded Blind Hypogenital male Youth
Presentation/Congenital Syndromes Renal failure
Presentation/Juvenile Cataract
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Parental consanguinity
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Male
Laboratory Tests
Abnormal Lab Findings - Decreased
FSH/Follicle Stmulating Hormone/ICSH (Lab)
LH/Leutinizing Hormone (Lab)
Testosterone Total (Lab)
Diagnostic Test Results
Other Tests & Procedures
TEST/Failure of clomiphen to raise FSH/LH
Associated Diseases & Rule outs
Rule Outs
Prader-Willi syndrome
Associated Disease & Complications
Blindness
Blindness, central
Cataract
Congenital heart disease
Congenital urinary tract malformations
Hereditary Blindness
Hypogenitalism/male
Hypogonadism, male
Infertility/sterility male
Laurence-Moon syndrome
Limb deformities/anomalies
Mental retardation
Microphallus deformity
Microphthalmos
Obesity
Obesity in Children
Obesity, massive
Paraplegia, spastic
Paraplegia, spastic hereditary
Pigmentary retinal dystrophy
Polydactyly/Supernumery digits
Renal anomalies
Renal Failure Chronic
Retinal Degeneration/Dystrophy
Retinitis pigmentosa
Retinopathy
Secondary male hypogonadism
Skull deformities
Strabismus, convergent
Tetralogy of Fallot
Genital Hypoplasia
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome 16
Pathophysiology/Gene locus Chromosome 16q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Novel Gene BBS/LMB at 16q
Pathophysiology/Hypogonadotrophic hypogonadism
Pathophysiology/Secondary Testicular Failure
Pathophysiology/Hypothalamic pituitary dysfunction
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Hypogonadotropic hypogonadism/congenital
Synonyms
Synonym
Laurence Moon, Laurence Moon Biedl syndrome, Laurence Moon Syndrome, Laurence Moon syndrome (disorder), Lawrence Moon Biedl Syndrome, Syndrome Laurence Moon, Syndrome Laurence Moon Biedl, Synonym/Bardet-Biedl syndrome
Definition

Bardet Biedl Syndrome

Biedl-Bardet Syndrome

Disorder Subdivisions

General Discussion

Bardet-Biedl Syndrome is a group of rare disorders inherited as autosomal recessive genetic traits. Major features of these disorders may include mental retardation, obesity, delayed sexual development or underdeveloped reproductive organs, progressive pigmentary degeneration of the retinas of the eyes, kidney abnormalities in structure or function, and/or abnormal or extra fingers and/or toes. Confusion exists in the medical literature regarding the difference between Bardet-Biedl Syndrome and Laurence-Moon Syndrome. [NORD 2005]\---------------------------

.Laurence-Moon Syndrome

Previously known as: Laurence Moon Biedel Syndrome, Laurence-Moon Bardet-Biedl syndrome

This genetic autosomal recessive disorder presents in childhood and is characterised by progressive neurological, ophthalmic and endocrine manifestations which deteriorate to cause eventual blindness and spastic paraplegia.

Presentation Hypogenitalism is present at birth (hypogonadotrophic hypogonadism noted postpubertally). Retinitis pigmentosa (night blindness and progressive visual loss), mental retardation and ataxia become apparent during childhood. The progressive spastic paraplegia results in a bedridden state by early adulthood.

Management There is no treatment for underlying condition. A multidisciplinary approach is required involving paediatrics, neurology, ophthalmology, endocrinology and genetic counselling.

This syndrome is distinct from the Bardet-Biedl syndrome because of the presence of paraplegia; and absence polydactyly and obesity. [Patient Knowledge. com pk 2005]

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External Links Related to Laurence-Moon-Biedel syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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