Bilateral microtia

Gene: EVC

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#193530:Weyers acrodental dysostosis [Short stature, mild; Prominent antihelix; Hypotelorism; Multiple frenula; Single central incisor; Conical teeth (permanent teeth); Irregular, small, or absent incisors (permanent teeth); Cleft of mandibular symphysis (infancy); Short hands; Postaxial polydactyly; Fifth finger clinodactyly; Mild brachydactyly; Postaxial polydactyly; Hypoplastic nails; Dysplastic nails]; #225500:Ellis-van Creveld syndrome [Short-limb dwarfism identifiable at birth; Average adult height, 109 to 152 cm; Normocephaly; Normal with exception of upper-lip defect; Partial cleft lip; Defect in alveolar ridge; Neonatal teeth; Hypodontia; Delayed eruption; Atrial septal defect; Single atrium; Other congenital heart defects; Narrow chest; Pectus carinatum; Short, poorly developed ribs; Epispadias; Hypospadias; Cryptorchidism; Low iliac wings; Spur-like projections at medialateral aspect of acetabula; Centrifugal shortening of limbs; Fusion of capitate and hamate; Genu valgum; Short, thickened tubular bones; Difficulty forming a fist; Postaxial polydactyly; Cone-shaped epiphyses of phalanges 2 to 5; Talipes equinovarus; Postaxial polydactyly; Nail dysplasia; Mental retardation (some); Dandy-Walker malformation]

Publications

• PMID:10700162
• 10700184
• 12571802
• 14217223
• 15368503
• 17660199
• 19251731
• 22981989
• 23026747
• 23220543
• 23315474
• 7628126
• 7635486
• 9066272

Red List (low evidence)

MIM 604831

Created: 3 Feb 2016, 4:47 p.m.