Nager syndrome

A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
31235977
 OTHER
A Case of Nager Syndrome Diagnosed Before Birth.
Hayata K, Masuyama H, Eto E, Mitsui T, Tamada S, Eguchi T, Maki J, Tani K, Ohira A, Washio Y, Yoshimoto J, Hasegawa K.
Acta Med Okayama. 2019;73(3):273-277.
Nager syndrome is a rare disease involving severe micrognathia and upper limb shortening.
31235977
 OTHER
A Case of Nager Syndrome Diagnosed Before Birth.
Hayata K, Masuyama H, Eto E, Mitsui T, Tamada S, Eguchi T, Maki J, Tani K, Ohira A, Washio Y, Yoshimoto J, Hasegawa K.
Acta Med Okayama. 2019;73(3):273-277.
Since a differential diagnosis of Nager syndrome can be made based on the fact that micrognathia typically co-occurs with upper limb shortening, it is possible to diagnose the disease before birth and prepare for life-saving measures accordingly.
31235977
 OTHER
A Case of Nager Syndrome Diagnosed Before Birth.
Hayata K, Masuyama H, Eto E, Mitsui T, Tamada S, Eguchi T, Maki J, Tani K, Ohira A, Washio Y, Yoshimoto J, Hasegawa K.
Acta Med Okayama. 2019;73(3):273-277.
In this report, we describe a case in which micrognathia of the fetus was suspected based on the observation of upper limb shortening during detailed B mode and 3D/4D ultrasonographic observation, and combined fetal MRI and 3D-CT led to a prenatal diagnosis of Nager syndrome.
23913624
 FEMALE Infant, Newborn
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E.
Am J Med Genet A. 2013;161A(9):2311-5.
Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe micrognathia and malar hypoplasia) and Miller syndrome with postaxial malformations plus mandibulofacial dysostosis.
17013486
 MALE Infant
Nager's acrofacial dysostosis with hypertrophic cardiomyopathy.
Kahrom M, Abbaszadegan MR, Kahrom H, Vakili R.
Saudi Med J. 2006;27(10):1578-81.
Nager syndrome is a rare condition associated with craniofacial malformations such as, micrognathia, zygomatic hypoplasia, external ear malformations, and preaxial limb deformities.
15184856
 MALE
Nager syndrome (preaxial acrofacial dysostosis): a case report.
Kavadia S, Kaklamanos EG, Antoniades K, Lafazanis V, Tramma D.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004;97(6):732-8.
The Nager syndrome is a rare condition associated with craniofacial malformations such as micrognathia, zygomatic hypoplasia, cleft palate, and preaxial limb deformities.
12601847
 FEMALE
Prenatal ultrasound diagnosis of Nager syndrome.
Paladini D, Tartaglione A, Lamberti A, Lapadula C, Martinelli P.
Ultrasound Obstet Gynecol. 2003;21(2):195-7.
Nager syndrome, or acrofacial dysostosis, is a rare malformation complex characterized by facial anomalies (external ear abnormalities and micrognathia) and limb defects (radial hypoplasia and absence of the thumb and/or other digits).
11982847
 MALE Child
Anaesthetic implications of Nager syndrome.
Groeper K, Johnson JO, Braddock SR, Tobias JD.
Paediatr Anaesth. 2002;12(4):365-8.
The physical features of Nager syndrome include down slanted palpebral fissures, malar hypoplasia, a high nasal bridge, atretic external auditory canals, cleft palate and micrognathia.
11103674
 MIXED_SAMPLE
[Distraction osteogenesis of the mandible in 2 children with obstruction of the upper respiratory tract due to micrognathia].
Becking AG, Jansma J.
Ned Tijdschr Geneeskd. 2000;144(44):2111-5.
A girl approximately 2 years old with Pierre Robin sequence had periods of nocturnal respiratory insufficiency as a consequence of micrognathia and a boy nearly 4 years old with Nager syndrome and tracheostomy was retarded in his speech development, had problems swallowing and often had respiratory tract infections.
3367347
 MIXED_SAMPLE Infant, Newborn
Autosomal recessive inheritance of Nager acrofacial dysostosis.
Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski L, Ophir D.
J Med Genet. 1988;25(4):230-2.
Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects.