Complex lethal osteochondrodysplasia

Orpha code: 457378OMIM code: 616897

Definicja

A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type
Złożona śmiertelna osteochondrodysplazja typu Symoensa, Barnesa i Gistelincka
Kod ORPHA
457378
Kod OMIM
616897
Kod ICD10
Q78.8
Kod ICD11
-

No additional description.

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