Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ABCC9
PMID:24352916 reported a Japanese family with Cantu syndrome, of which the boy had bicoronal synostosis, which was absent in the father. Craniosynostosis has not previously been reported as part of Cantu syndrome. This gene should only be rated red as there is only one case reported so far.Created: 19 Jul 2023, 6:17 p.m. | Last Modified: 19 Jul 2023, 6:18 p.m.
Panel Version: 4.100
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypertrichotic osteochondrodysplasia (Cantu syndrome), OMIM: 239850
Publications
Osteochondrodysplasia with thickened calvaria. Distinctive facial features. Sagittal & coronal CSS has been described in one individual (GeneReviews). ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Phenotypes
hypertrichotic osteochondrodysplasia - 239850 (Cantu syndrome)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ABCC9; Suggested initial gene rating: redCreated: 5 Mar 2019, 11:21 a.m.
Publications for gene: ABCC9 were set to
Mode of inheritance for gene: ABCC9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes hypertrichotic osteochondrodysplasia, Cantu syndrome 239850 for gene: ABCC9
gene: ABCC9 was added gene: ABCC9 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: ABCC9 was set to