Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

Synonyms: Osteocraniosplenic syndrome Gracile bone dysplasia

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Term information

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ICD-10:Q78.0

UMLS:C1865639

OMIM:602361

notation

ORPHA:2763