Learn About Acrofacial Dysostosis Nager Type

What is the definition of Acrofacial Dysostosis Nager Type?

Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.

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What are the causes of Acrofacial Dysostosis Nager Type?

More than half of cases of Nager syndrome are caused by mutations in the SF3B4 gene. The cause of the remainder of cases is unknown; other genes are thought to be involved in the condition.

How prevalent is Acrofacial Dysostosis Nager Type?

Nager syndrome is a rare condition. Its prevalence is unknown. More than 75 cases have been reported in the medical literature.

Is Acrofacial Dysostosis Nager Type an inherited disorder?

When caused by mutations in the SF3B4 gene, Nager syndrome follows an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the mutation from one affected parent. Autosomal dominant Nager syndrome may also be caused by mutations in other genes.

Who are the top Acrofacial Dysostosis Nager Type Local Doctors?
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54
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Institute Of Human Genetics

Duesseldorf, NW, DE 

Dagmar Wieczorek is in Duesseldorf, Germany. Wieczorek is rated as an Elite expert by MediFind in the treatment of Acrofacial Dysostosis Nager Type. She is also highly rated in 54 other conditions, according to our data. Her top areas of expertise are Acrofacial Dysostosis Nager Type, Choanal Atresia, Micrognathia, and Coffin-Siris Syndrome.

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31
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Guy's And St Thomas' NHS Foundation Trust

London, ENG, GB 

Muriel Espinasse-Holder is in London, United Kingdom. Espinasse-Holder is rated as a Distinguished expert by MediFind in the treatment of Acrofacial Dysostosis Nager Type. She is also highly rated in 31 other conditions, according to our data. Her top areas of expertise are Acrofacial Dysostosis Nager Type, 3M Syndrome, Acrofacial Dysostosis Catania Type, and Split Hand Foot Malformation.

 
 
 
 
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Distinguished
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19
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University Of Calgary

Calgary, AB, CA 

Francois Bernier is in Calgary, Canada. Bernier is rated as a Distinguished expert by MediFind in the treatment of Acrofacial Dysostosis Nager Type. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are Acrofacial Dysostosis Nager Type, Cranioectodermal Dysplasia, Craniosynostosis Autosomal Dominant, and Acrofacial Dysostosis Catania Type.

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Who are the sources who wrote this article ?

Published Date:updated Last, August

Published By: National Institutes of Health

What are the Latest Advances for Acrofacial Dysostosis Nager Type?
Obstructive sleep apnea in microtia children with maxillofacial dysostosis.
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