Asphyxiating Thoracic Dystrophy
Conditions
Keywords
Natural history, IFT80, short ribs, multivisceral involvement
Brief summary
The aim of the project is to prospectively analyze at a clinical and molecular level a series of 50 asphyxiating thoracic dysplasia (ATD) patients and 20 fetuses to further define the natural history of the disorder and to contribute to the identification of its molecular basis.
Detailed description
Asphyxiating thoracic dysplasia (ATD, MIM 208500) belongs to the short rib polydactyly group and is characterized by short ribs often responsible for an early death due to respiratory distress, trident acetabular roof and short long bones. In the course of the disease, renal, liver and eye complications may occur. However, their frequencies are unknown. ATD is transmitted with an autosomal mode of inheritance and up till now only one gene has been identified, namely IFT80, which accounts only for a small part of ATD. The aim of our project is to prospectively analyze at a clinical and molecular level a series of 50 ATD patients and 20 fetuses to further define the natural history of the disorder and to contribute to the identification of its molecular basis.
Interventions
GENETICIFT80 screening
Natural History
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Short ribs with narrow thorax * Trident acetabular roof * Short hands * All ages * Informed consent signed
Exclusion criteria
* Other disease * Ellis van creveld syndrome * No social security
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Natural history of asphyxiating thoracic dystrophy (ATD) | 3 years |
Secondary
| Measure | Time frame |
|---|---|
| Correlation Phenotype-Genotype | 3 years |
Countries
France
Outcome results
None listed