Osteocraniostenosis

MONDO:0011215

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.

Also known as: Osteocraniosplenic syndrome, gracile bone dysplasia, osteocraniostenosis, GCLEB, skeletal dysplasia lethal with gracile bones

0 clinical trials for this condition and its sub-types, 0 tagged with Osteocraniostenosis itself.

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↑ Primordial dwarfism and slender bone disorder (9) ↑ FAM111A-related skeletal dysplasia (0)

Including sub-types (0) Tagged with Osteocraniostenosis (0)

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