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Survey about achondroplasia
We have designed a questionnaire with the purpose to better know the population connected to achondroplasia.
The questionnaire is optional and anonymous. The data obtained will be used for statistical purposes and to better understand the natural history of achondroplasia. Please consider answering.
If you would like to take the survey later, you can click on the link at the top "Register at BA"
This paper is directed at pediatricians, providing guidelines and recommendations for health supervision by age group. It is designed for these doctors to follow and be aware of the development of children (both motor development and growth development), including development screening tools and growth charts.
It highlights what should be done, and when, to manage this condition from birth to 21 years of age, including what examinations should be done at each age step.
Trotter, T. L., Hall, J. G., & American Academy of Pediatrics Committee on, G. (2005). Health supervision for children with achondroplasia. Pediatrics, 116(3), 771-783. doi:10.1542/peds.2005-1440


Read the full text here.




"Achondroplasia is the most common condition associated with disproportionate short stature. Substantial information is available concerning the natural history and anticipatory health supervision needs in children with this dwarfing disorder. Most children with achondroplasia have delayed motor milestones, problems with persistent or recurrent middle-ear dysfunction, and bowing of the lower legs. Less often, infants and children may have serious health consequences related to hydrocephalus, craniocervical junction compression, upper-airway obstruction, or thoracolumbar kyphosis. Anticipatory care should be directed at identifying children who are at high risk and intervening to prevent serious sequelae. This report is designed to help the pediatrician care for children with achondroplasia and their families."



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