Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: FAM20C

Green List (high evidence)

Osteosclerotic bone dysplasia with increased skull ossification. 2 unrelated cases with missense variants survived beyond infancy and had turribrachycephaly, one also had plagiocephaly - 1 of the 2 cases in Simpson (2009) definitely had CSS as it was an Oxford case. The other has cranial remodelling so also likely CSS. AW aware of several unpublished cases with CSS. Amber or even green - its an important diagnosis to make. ; Review on behalf of Tracy Lester/Andrew Wilkie

Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. Andrew Wilkie of Wessex and West Midlands GLH confirmed several unpublished cases.

Created: 21 May 2019, 12:20 p.m.

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: FAM20C; Suggested initial gene rating: green

Created: 5 Mar 2019, 11:21 a.m.

Red List (low evidence)

Single case of craniosynostosis in non-lethal presentation

Created: 14 Sep 2015, 1:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Raine syndrome

Publications

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