craniosynostosis 7

Term ID

DOID:0060912

Synonyms

• CRS7

Definition

A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. https://pubmed.ncbi.nlm.nih.gov/23438589/

References

• OMIM:617439

Ontology

Human Disease   ( DOID:0060912 )