Even-Plus Syndrome (EVPLS)

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OMIM 58 616854 MeSH 45 D000015 Orphanet 60 ORPHA496751

MedGen 43 C4225180 CN235493 SNOMED-CT via HPO 70 13649004 197811007 197927001 200775004 204317008 204712000 204731006 224958001 237836003 237837007 24079001 249310005 249326006 253207002 253366007 254080004 254237003 258211005 27272007 32659003 35045004 35484002 405752007 422065006 5102002 59566000 64969001 70142008 74223008 95427009 more

OMIM : ⁵⁸ EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome (600373; Royer-Bertrand et al., 2015). (616854)

MalaCards based summary : Even-Plus Syndrome, also known as epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations, is related to chronic interstitial cystitis and thyroid cancer. An important gene associated with Even-Plus Syndrome is HSPA9 (Heat Shock Protein Family A (Hsp70) Member 9). Affiliated tissues include bone, kidney and thyroid, and related phenotypes are global developmental delay and microtia

UniProtKB/Swiss-Prot : ⁷⁶ Even-plus syndrome: An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others.

Clinical features from OMIM:

616854

Search Clinical Trials , NIH Clinical Center for Even-Plus Syndrome

Search GEO for disease gene expression data for Even-Plus Syndrome.