mandibulofacial dysostosis
Mandibulofacial dysostosis or bilateral hemifacial microsomia
Association
hearing loss
telecanthus
tetramelic postaxial hexadactyly
congenital hypotonia and lymphedema with joint hypermobility
pigmentary dysplasia
Variants
duodenal atresia with biliary atresia associated with facial, thyroid and auditory apparatus abnormalities (#16957470#)
References
Maegawa GH, Chitayat D, Blaser S, Whyte H, Thomas M, Kim P, Kim J, Taylor G, McNamara PJ. Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome? Clin Dysmorphol. 2006 Oct;15(4):191-6. PMID: #16957470#
Opitz JM, Reynolds JF, FitzGerald JM. Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome? Am J Med Genet. 1989 Aug;33(4):433-5. PMID: #2556918#