Complex lethal osteochondrodysplasia

Orpha code: 457378OMIM code: 616897

Definition

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
Classification

Malformation syndrome

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

No additional description.

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