Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: IDUA

Green List (high evidence)

CSS of at least one suture was present in 77% of 47 MPS cases (types I,II,VI, VII). >3 cases with IDUA, IDS, ARSB variants. One with GUSB (Oussoren et al 2018). ; Review on behalf of Tracy Lester/Andrew Wilkie

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; 607016

Publications

• 23917744

I don't know

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: IDUA; Suggested initial gene rating: green

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

Comment when marking as ready: Craniosynostosis is a recognised complication of Hurler disease but diagnosis should only been made when other features present, and should be confirmed biochemically

Created: 1 Feb 2016, 11:16 a.m.

Green List (high evidence)

Craniosynostosis is a recognised complication of Hurler disease but diagnosis should only been made when other features present, and should be confirmed biochemically

Created: 14 Sep 2015, 3:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hurler syndrome; Scheie syndrome

Publications

• 23917744