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Pericardial and diaphragmatic defect
Disease definition
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.
ORPHA:2847
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive or Not applicable
- Age of onset: Infancy, Neonatal
- ICD-10: Q79.1
- OMIM: -
- UMLS: C4510305
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
It has been reported in less than 20 patients.
Clinical description
The absence of pericardic tissue is complete or partial. The diaphragmatic hernia is most often left-sided. Some patients have additional digestive tract malformations.
Genetic counseling
The few reported cases were all sporadic except in a family in which the recurrence of these anomalies in two sibs and the parental consanguinity suggested an autosomal recessive inheritance.
A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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