Achondroplasia

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Prevalence (%) of clinical parameters based on data from 2 references describing 596 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Short stature skeletal 100 % 690757 2012-05-09
Short limbs skeletal 100 % 690757 2012-05-09
Macrocephaly skeletal 100 % 690757 2012-05-09
Back pain skeletal 70 % 9733026 2012-05-09
Orthodontic problem digestive 54 % 9733026 2012-05-09
Tibial bowing skeletal 42 % 9733026 2012-05-09
Spinal stenosis skeletal 42 % 9733026 2012-05-09
Otitis media skeletal 40 % 9733026 2012-05-09
Tonsillectomy lymphatic 39 % 9733026 2012-05-09
Conductive hearing loss nervous 38 % 9733026 2012-05-09
Speech delay nervous 19 % 9733026 2012-05-09
Apnea respiratory 16 % 9733026 2012-05-09



List of references:


Standard growth curves for achondroplasia.
W A Horton, J I Rotter, D L Rimoin, C I Scott, J G Hall,



The Journal of pediatrics - Sep 1978



Medical complications of achondroplasia: a multicentre patient review.
A G Hunter, A Bankier, J G Rogers, D Sillence, C I Scott,



Journal of medical genetics - Sep 1998