Neurologic manifestations of achondroplasia.

[achondroplasia]

Achondroplasia is the best described and most common form of the congenital short -limbed dwarfing conditions . Achondroplasia is apparent at birth and has a birth prevalence of 1 in 2000 0 -30000 live-born infants . Achondroplasia is inherited as an autosomal dominant condition , although 80 % of cases occur sporadically as new events in their families . Achondroplasia is caused , in virtually all of the cases , by a G 380 R mutation in fibroblast growth factor receptor 3 (FGFR 3 ). Patients with achondroplasia should be evaluated by a multidisciplinary team of clinicians including geneticists , neurologists , and orthopedists , since there are numerous bony and neurological complications . The most severe complication results from craniocervical stenosis and medullary and upper spinal cord compression , which can have devastating and even lethal sequelae during early childhood . In subsequent decades , including adolescence , spinal cord and nerve compression are more prominent . The neurological complications of achondroplasia have been recognized in adults for more than a century and are attributed to bony defects , connective tissue structures , or both . Similar neurological complications are now appreciated in infants , young children , and teenagers with achondroplasia . Defective connective tissue elements in achondroplasia frequently lead to ligamentous laxity , which can aggravate the complications associated with bony stenosis . Bony abnormalities are known to cause neurological morbidity and lead to a shortened lifespan . Neurological complications associated with achondroplasia are reviewed , including recommendations for the evaluation and management of these clinical problems .

Diseases
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Diseases presenting "mutation in fibroblast growth factor receptor 3" symptom

achondroplasia

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