Nager acrofacial dysostosis
|Nager acrofacial dysostosis|
|Other names: Nager syndrome, mandibulofacial dysostosis with preaxial limb anomalies|
|Nager acrofacial dysostosis is inherited in an autosomal dominant manner.|
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. 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 five other craniofacial syndromes: Miller, Treacher Collins, Pierre Robin, Genee–Wiedemann and Franceschetti–Zwahlen–Klein.
Signs and symptoms
The clinical presentation of Nager acrofacial dysostosis is consistent with the following:
- Abnormal nasal morphology
- Cleft palate
- Joint stiffness
- Lower limb deformity
- Patent ductus arteriosus
- Prominent nasal bridge
- Talipes equinovarus
- Delayed speech
- Hearing impairment
- Tetralogy of Fallot
- Short toe
Nager syndrome is thought to be caused by haploinsufficiency of the spliceosomal factor SF3B4.
The treatment of this condition entails the following:
- Cleft palate surgery
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Nager syndrome". www.orpha.net. Archived from the original on 1 October 2020. Retrieved 27 April 2019.
- ↑ "OMIM Entry - # 154400 - ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1". omim.org. Archived from the original on 12 September 2017. 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.
- ↑ 4.0 4.1 "Nager acrofacial dysostosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 18 March 2021. Retrieved 8 August 2021.
- ↑ Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS (Apr 26, 2012). "Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome". American Journal of Human Genetics. 90 (5): 925–33. doi:10.1016/j.ajhg.2012.04.004. PMC 3376638. PMID 22541558.