Global InformationNager acrofacial dysostosis information
| Nager acrofacial dysostosis | |
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| Other names | Nager syndrome, mandibulofacial dysostosis with preaxial limb anomalies[1] |
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| Nager acrofacial dysostosis is inherited in an autosomal dominant manner.[2] | |
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss (see hearing loss with craniofacial syndromes) and shortened forearms, as well as poor movement in the elbow, and may be characterized by accessory tragi.[3] Occasionally, affected individuals develop vertebral anomalies such as scoliosis.
The inheritance pattern is autosomal, but there are arguments as to whether it is autosomal dominant or autosomal recessive. Most cases tend to be sporadic. Nager syndrome shares many characteristics with other craniofacial syndromes: Miller, Treacher Collins and Pierre Robin.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Nager syndrome". www.orpha.net. Retrieved 27 April 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "OMIM Entry - # 154400 - ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1". omim.org. Retrieved 19 August 2017.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.