osteocraniostenosis
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.
MONDO:0800063
primordial dwarfism and slender bone disorder
is_a
MONDO:1060172
FAM111A-related skeletal dysplasia
is_a
GCLEB
related
Osteocraniosplenic syndrome
exact
gracile bone dysplasia
exact
osteocraniostenosis
exact
skeletal dysplasia lethal with gracile bones
related