Lethal osteosclerotic bone dysplasia

Orpha code: 1832OMIM code: 259775

Definition

A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

Disease data
Classification

Malformation syndrome

Synonyms
Raine syndrome
Zespół Raine
ORPHA code
1832
OMIM code
259775
ICD10 code
Q78.2
ICD11 code
LD24.1Y

No additional description.

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