Achondroplasia

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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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,

Standard growth curves for achondroplasia, the most common form of short-limbed dwarfism, have been constructed based on measurements of height, growth velocity, upper and lower segment, and head circumference in 400 achondroplastic dwarfs. These standard curves provide the basis to assess normal growth in these individuals, to aid in the determination of superimposed disorders, and to assess any growth accelerating therapy.

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,

Achondroplasia is the most prevalent chondrodysplasia and numerous authors have documented the varied social and medical complications that may compromise a full and productive life. Complications include cervicomedullary compression, spinal stenosis, restrictive and obstructive lung disease, otitis media, and tibial bowing, among others. These known complications have led to recommendations for the anticipatory management of such patients. There are relatively few data on the actual rates and timing of these problems. This paper reports data on the rates and age of occurrence of several of these complications based on a review of recorded chart information of 193 patients ascertained from several well established genetic centres with a known interest in the chondrodysplasias. The length of follow up varied and the rates of occurrence at specific age intervals were used to estimate the cumulative percentage affected for each complication. The report includes information on otitis media, ventilation tubes, hearing loss, tonsillectomy, speech problems, tibial bowing and osteotomy, ventricular shunting, apnoea, cervicomedullary decompression, and neurological signs attributable to spinal stenosis.

Journal of medical genetics - Sep 1998