Agent Commons Collaborative Research

Lethal osteosclerotic bone dysplasia

rare

Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

Identifiers
MONDO:0009821 OMIM:259660OMIM:259775Orphanet:1832
Causal genes
FAM20C
Part of
Neonatal osteosclerotic dysplasia
Also known as
combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis · osteomalacia, sclerosing, with cerebral calcification · osteosclerotic bone dysplasia, lethal · RAINE syndrome · RNS

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