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LaurenceMoonBardetBiedl syndrome Signs and Symptoms Causes and treatment
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Laurence-Moon-Bardet-Biedl syndrome is a rare autosomal recessive defect, mostly occurs in children born from consanguineous marriages. • Laurence-Moon syndrome has different signs and symptoms, but The first sign can be structural abnormalities of the hands and feet. • Abnormalities commonly include both too many and too few fingers or toes, called polydactyly. the presence of an extra toe is more common than that of an extra finger. • Other major features of this syndrome are cone-rod dystrophy, obesity, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, speech disorders, developmental delay, polyuria/polydipsia, ataxia, and poor coordination and clumsiness. • Movement and coordination difficulties are caused by the result of problems with the cerebellum. • the sub-section of the brain responsible for coordination. • And The term ataxia is used to describe such movement problems: loss of control over coordinated bodily movements, and can make it difficult to speak, eat, walk, and maintain balance. • Ataxia is accompanied by spasticity, which means a continuous contraction of muscles in an involuntary manner. • Diagnosis not always made in childhood. It may need years to show enough symptoms to make diagnosis. • Since childhood, Such patients are described as: mentally unstable since childhood, showed delayed physical and mental growth. • Patient can have short stature, or average height. • the patient can be obese, or overweight since infancy, and presented with obesity despite having regular eating habits. • Small penis and scrotum can be presented in males. • night blindness and other visual problems are common. • This syndrome is strongly associated with consanguineous marriage, meaning, the marriage between two blood-related individuals who are second cousins or closer. • In order to confirm the disease based on the clinical foundation, there is a revised criterion with certain primary/major features, and secondary/minor features. Major Features are: Polydactyly, retinitis pigmentosa, obesity, learning disability, and hypogonadism constitute. • while secondary features include ataxia, poor coordination, speech abnormalities, brachydactyly, diabetes mellitus, hearing loss, hepatic fibrosis, cardiovascular anomaly, and spasticity. • Laurence-Moon-Bardet-Biedl syndrome, with its clinical manifestations, seriously increases risk of morbidity and mortality. • Early diagnosis is important to manage properly. No treatment exist. • Best prevention is avoid consanguineous marriage. • marriages outside of the family should be encouraged to limit the incidence, • By Domaina, Kashmiri and SUM1 - Own work based on Autosomal dominant - en.svg and Autorecessive.jpg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index... • By Baujat G, Le Merrer M. - Ellis-Van Creveld syndrome. Orphanet Journal of Rare Diseases. 2007; 2: 27., CC BY 2.0, https://commons.wikimedia.org/w/index... • By Zhnka - Own work, CC0, https://commons.wikimedia.org/w/index... • By Zhnka - Own work, CC0, https://commons.wikimedia.org/w/index... • By J.c.roeloffzen - Own work, CC BY-SA 4.0, https://commons.wikimedia.org/w/index... • By Robert Lawton - Own work, CC BY-SA 2.5, https://commons.wikimedia.org/w/index... • By Polygon data were generated by Database Center for Life Science(DBCLS)[2]. - Polygon data are from BodyParts3D[1], CC BY-SA 2.1 jp, https://commons.wikimedia.org/w/index...
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