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Acrofacial Dysostosis:- Nager Syndrome

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There are at least 2 conditions that are described as acrofacial dysostoses:- Nager syndrome (preaxial acrofacial dysostosis) and Miller syndrome (also known as Wildervanck-Smith syndrome, Genee-Wiedemann syndrome and postaxial acrofacial dysostosis). The name refers to the presence of both facial and distal (or acral) limb anomalies. Most cases of Nager syndrome have been sporadic. There have been reports of affected siblings and parental consanguinity for both Nager and Miller syndromes, suggesting the possibility of autosomal recessive inheritance. However, there have also been some families reported with vertical transmission, suggesting an autosomal dominant pattern of inheritance.In both Nager and Miller syndromes the face is similar to that in Treacher-Collins syndrome (mandibulo-facial dysostosis) with zygomatic hypoplasia resulting in downslanting palpebral fissures, lower lid colobomas (in 20% of cases) and absent lower lid eyelashes. There is usually marked micrognathia and cleft palate is also common. Velopharyngeal insufficiency has also been noted in the absence of cleft. In Nager syndrome the thumb is usually hypoplastic or aplastic, but thumb duplication or triphalangy has been reported. About half the patients have unilateral radial aplasia or hypoplasia or proximal radio-ulnar synostosis.The radial defect never occurs without agenesis of the thumb. References Title: Nager acrofacial dysostosis: Autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son Author: Hall BD Journal: Am J Med Genet 33:394-397 Year: 1989 Title: Sonography of Nager acrofacial dysostosis syndrome in utero Author: Benson CB, Pober BR, Hirsch MP, et al Journal: J Ultrasound Med 7:163-167 Year: 1988 Title: Anomalies in an infant with Nager acrofacial dysostosis Author: Krauss CM, et al Journal: Am J Med Genet 21:761-764 Year: 1985 Title: Nagerís acrofacial dysostosis with thumb duplication: Report of a case Author: Giugliani R, Pereira CH Journal: Clin Genet 26:228-230 Year: 1984 Title: Acrofacial dysostosis (Nager syndrome): Synopsis and report of a case Author: Pfeiffer RA Journal: Am J Med Genet 15:255-260 Year: 1983 Title: The Nager syndrome. Author: Hecht JT, Immken LL, Harris LF, Malini S, Scott CI Jr. Journal: Am J Med Genet Aug;27(4):965-9. Year: 1987 Title: Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis. Author: Opitz JM, Mollica F, Sorge G, et al. Journal: Am J Med Genet 47:660-678. Year: 1993 Title: Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome. Author: Petit P, Moerman P, Fryns JP. Journal: Genetic Counseling 4:135-137. Year: 1993 Title: Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. Author: Zori RT, Gray BA, Bent-Williams A, Driscoll DJ, Williams CA, Zackowski JL. Journal: Am J Med Genet Jun 1;46(4):379-83 Year: 1993 Title: Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature. Author: Cohen J; Ghezzi F; Goncalves L; Fuentes JD; Paulyson KJ; Sherer DM Journal: Am J Perinatol Nov;12(6):416-9 Year: 1995

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