Abstract
Genée–Wiedemann syndrome is characterized by hypoplasia or aplasia of the ulnar ray, manifesting as small or missing digits and toes V and occasionally II and IV. In addition, the thumb may be small and proximally placed. The ulna and radius can be hypoplastic and the olecranon small or missing, and there may be radioulnar synostosis. Facial abnormalities include micrognathia, cleft lip and/or palate, coloboma of the eyelids, ectropion, downward slanting palpebral fissures, cup-shaped ears, low-set ears, hearing loss, choanal atresia, and tooth abnormalities. Further anomalies include rib abnormalities, pectus excavatum, supernumerary nipples, postnatal growth, pyloric stenosis, and midgut malrotation.
This is a preview of subscription content, log in via an institution.
References
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM et al (2010) Exome sequencing identifies the cause of a mendelian disorder. Nature Genet 42:30–35
Ogilvy-Stuart AL, Parsons AC (1991) Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype. J Med Genet 28:695–700
Wiedemann HR (1973) Missbildungs-Retardierungs-Syndrom mit Fehlen des 5: Strahls an Haenden and Fuessen, Gaumenspalte, dysplastischen Ohren und Augenlidern und radioulnarer Synostose. Klin Paediat 185:181–186
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
Copyright information
© 2014 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Mundlos, S., Horn, D. (2014). Genée–Wiedemann Syndrome. In: Limb Malformations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-95928-1_84
Download citation
DOI: https://doi.org/10.1007/978-3-540-95928-1_84
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-95927-4
Online ISBN: 978-3-540-95928-1
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)