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Osteopathia striata with cranial sclerosis
rareOsteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
- Identifiers
- MONDO:0010310 OMIM:300373Orphanet:2780
- Causal genes
- AMER1
- Part of
- Osteopetrosis
- Also known as
- hyperostosis generalisata with striations · OSCS · osteopathia striata - cranial sclerosis · osteopathia striata cranial sclerosis · Osteopathia striata with cranial sclerosis, X-linked dominant
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