Laurence-Moon-Bardet-Biedl syndrome - Signs and Symptoms, Causes and treatment
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Laurence-Moon-Bardet-Biedl syndrome is a rare
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, commons.wikimedia.org/w/index.php?curid=19018894
By Baujat G, Le Merrer M. - Ellis-Van Creveld syndrome. Orphanet Journal of Rare Diseases. 2007; 2: 27., CC BY 2.0, commons.wikimedia.org/w/index.php?curid=2492717
By Zhnka - Own work, CC0, commons.wikimedia.org/w/index.php?curid=96380295
By Zhnka - Own work, CC0, commons.wikimedia.org/w/index.php?curid=96380295
By J.c.roeloffzen - Own work, CC BY-SA 4.0, commons.wikimedia.org/w/index.php?curid=35044621
By Robert Lawton - Own work, CC BY-SA 2.5, commons.wikimedia.org/w/index.php?curid=1374416
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, commons.wikimedia.org/w/index.php?curid=8956692
2 سال پیش
در تاریخ 1401/06/13 منتشر شده
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