Grange syndrome

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

Hypertension

The presence of chronic increased pressure in the systemic arterial system.


Total: 2

                       


(per page)
PMID (PMCID)
30556293
 OTHER
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
Rath M, Spiegler S, Strom TM, Trenkler J, Kroisel PM, Felbor U.
Am J Med Genet A. 2019;179(2):295-299.
Grange syndrome is an autosomal recessive condition characterized by arterial occlusions and hypertension.
16691574
 FEMALE
A new case of Grange syndrome without cardiac findings.
Wallerstein R, Augustyn AM, Wallerstein D, Elton L, Tejeiro B, Johnson V, Lieberman K.
Am J Med Genet A. 2006;140(12):1316-20.
Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects.