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单词 Nager acrofacial dysostosis
释义

Nager acrofacial dysostosis

英语百科

Nager acrofacial dysostosis

Nager acrofacial dysostosis is a congenital anomaly syndrome.

Nager Syndrome 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 and/or stomach reflux, hammer toes, shortened soft palate, petite, 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 sufferers develop vertebral anomalies such as scoliosis and sufferers do not usually have problems with their reproductive organs. Inheritance pattern said to be autosomal but there are arguments as to whether it is autosomal dominant or autosomal recessive. Most cases tend to be sporadic. Nager syndrome is also linked to five other similar syndromes: Miller syndrome, Treacher-Collins, Pierre-Robin, Genee-Wiedemann, and Franceschetti-Zwahlen-Klein.

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更新时间:2025/6/17 17:42:46