Nager acrofacial dysostosis
- Nager acrofacial dysostosis
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Nager acrofacial dysostosis is a congenital anomaly syndrome that may be characterized by accessory tragi.[1]
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. Occasionally sufferers develop vertrebral anomalies such as scoliosis and sufferers do not usually have problems with their reproductive organs. Usually sufferers have "normal" levels of intellect and lead productive lives. 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.[citation needed]
See also
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
Categories:
- Cutaneous congenital anomalies
- Congenital disorders
- Rare diseases
- Dermatology stubs
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Nager acrofacial dysostosis (syndrome) — Na·ger acrofacial dysostosis (syndrome) (nah zherґ) [Fйlix Robert Nager, Swiss otorhinolaryngologist, 1877–1959] see under dysostosis … Medical dictionary
Nager acrofacial dysostosis — a congenital condition in which mandibulofacial dysostosis is associated with limb deformities consisting of absence of the radius, radioulnar synostosis, and hypoplasia or absence of the thumbs … Medical dictionary
Acrofacial dysostosis, Nager type — The term Acrofacial Dysostosis was coined in 1948 by Nager and DeReynier. It describes a syndrome involving the skull and upper limbs. The most common form is the Nager type (NAFD) or Pre axial Acrofacial Dysostosis.The most common effects of… … Wikipedia
Nager syndrome — Nager de Reynier syndrome Nager acrofacial dysostosis … Medical dictionary
Nager-de Reynier syndrome — Na·ger de Rey·nier syndrome (nah zherґ də ra nyaґ) [F.R. Nager; Jean Pierre de Reynier, Swiss otologist, born 1914] Nager acrofacial dysostosis; see under dysostosis … Medical dictionary
Nager syndrome — (or acrofacial dysostosis) is an extremely rare congenital defect that has only had around 90 documented cases to date (02/06/07). Only 25 or so of these people survived. With several or all of the following characteristics: underdevelopment of… … Wikipedia
NAFD — Nager acrofacial dysostosis … Medical dictionary
NAFD — • Nager acrofacial dysostosis … Dictionary of medical acronyms & abbreviations
Miller syndrome — Classification and external resources OMIM #263750 This condition is also known as the Genee Wiedemann syndrome, Wildervanck Smith syndrome or postaxial acrofacial dystosis (POADS). The incidence of this condition is not known but it is… … Wikipedia
Hearing loss with craniofacial syndromes — is a common occurrence. Many of these multianomaly disorders involve structural malformations of the outer or middle ear, making a significant hearing loss highly likely. Treacher Collins syndrome Individuals with Treacher Collins syndrome often… … Wikipedia
