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The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US
Journal article   Peer reviewed

The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US

D K Waller, A Correa, Tuan M Vo, Y Wang, C Hobbs, P H Langlois, K Pearson, P A Romitti, G M Shaw and J T Hecht
American journal of medical genetics. Part A, Vol.146A(18), pp.2385-2389
09/15/2008
DOI: 10.1002/ajmg.a.32485
PMCID: PMC6034636
PMID: 18698630
url
https://www.ncbi.nlm.nih.gov/pmc/articles/6034636View
Open Access

Abstract

There have been no large population-based studies of the prevalence of achondroplasia and thanatophroic dysplasia in the United States. This study compared data from seven population-based birth defects monitoring programs in the United States. We also present data on the association between older paternal age and these birth defects, which has been described in earlier studies. The prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 livebirths (1/27,780-1/16,670 livebirths). The prevalence of thanatophoric dysplasia ranged from 0.21 to 0.30 per 10,000 livebirths (1/33,330-1/47,620 livebirths). In Texas, fathers that were 25-29, 30-34, 35-39, and > or =40 years of age had significantly increased rates of de novo achondroplasia among their offspring compared with younger fathers. The adjusted prevalence odds ratios were 2.8 (95% CI; 1.2, 6.7), 2.8 (95% CI; 1.0, 7.6), 4.9 (95% CI; 1.7, 14.3), and 5.0 (95% CI; 1.5, 16.1), respectively. Using the same age categories, the crude prevalence odds ratios for de novo cases of thanatophoric dysplasia in Texas were 5.8 (95% CI; 1.7, 9.8), 3.9 (95% CI; 1.1, 6.7), 6.1 (95% CI; 1.6, 10.6), and 10.2 (95% CI; 2.6, 17.8), respectively. These data suggest that thanatophoric dysplasia is one-third to one-half as frequent as achondroplasia. The differences in the prevalence of these conditions across monitoring programs were consistent with random fluctuation. Birth defects monitoring programs may be a good source of ascertainment for population-based studies of achondroplasia and thanatophoric dysplasia, provided that diagnoses are confirmed by review of medical records.
 United States - epidemiology Confidence Intervals Prevalence Paternal Age Thanatophoric Dysplasia - epidemiology Humans Male Achondroplasia - epidemiology Adult Odds Ratio Infant, Newborn Sentinel Surveillance Texas - epidemiology

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