Other Names for this Disease
- Asphyxiating thoracic dystrophy
- Infantile thoracic dystrophy
- Thoracic pelvic phalangeal dystrophy
- Jeune's syndrome
- Chondroectodermal dysplasia-like syndrome
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Tests & Diagnosis
In some cases, a diagnosis of Jeune syndrome may be suspected before birth if characteristic signs and symptoms are present on ultrasound. After birth, Jeune syndrome is based on X-ray findings. In some families, the diagnosis can be confirmed with genetic testing.
Last updated: 4/29/2015
- Harold Chen, MD, MS, FAAP, FACMG. Asphyxiating Thoracic Dystrophy (Jeune Syndrome). Medscape Reference. April 2015; http://emedicine.medscape.com/article/945537-overview.
- Jeune Syndrome. Orphanet. December 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.