Nager acrofacial dysostosis
Encyclopedia
Nager acrofacial dysostosis is a congenital anomaly syndrome that may be characterized by accessory tragi.

Nager Syndrome displays several or all of the following characteristics: underdevelopment of the cheek
Cheek
Cheeks constitute the area of the face below the eyes and between the nose and the left or right ear. They may also be referred to as jowls. "Buccal" means relating to the cheek. In humans, the region is innervated by the buccal nerve...

 and jaw
Jaw
The jaw is any opposable articulated structure at the entrance of the mouth, typically used for grasping and manipulating food. The term jaws is also broadly applied to the whole of the structures constituting the vault of the mouth and serving to open and close it and is part of the body plan of...

 area, down-sloping of the opening of the eye
Human eye
The human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...

s, lack or absence of the lower eyelashes, kidney and/or stomach reflux, hammer toe
Hammer toe
A hammer toe or contracted toe is a deformity of the proximal interphalangeal joint of the second, third, or fourth toe causing it to be permanently bent, resembling a hammer...

s, shortened soft palate
Soft palate
The soft palate is the soft tissue constituting the back of the roof of the mouth. The soft palate is distinguished from the hard palate at the front of the mouth in that it does not contain bone....

, petite, lack of development of the internal
Inner ear
The inner ear is the innermost part of the vertebrate ear. In mammals, it consists of the bony labyrinth, a hollow cavity in the temporal bone of the skull with a system of passages comprising two main functional parts:...

 and external ear
Ear
The ear is the organ that detects sound. It not only receives sound, but also aids in balance and body position. The ear is part of the auditory system....

, possible cleft palate, underdevelopment or absence of the thumb
Thumb
The thumb is the first digit of the hand. When a person is standing in the medical anatomical position , the thumb is the lateral-most digit...

, hearing loss (see hearing loss with craniofacial syndromes
Hearing loss with craniofacial syndromes
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 :...

) and shortened forearm
Forearm
-See also:*Forearm flexors*Forearm muscles...

s, 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
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...

 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
Miller syndrome
This condition is also known as the Genee-Wiedemann syndrome, Wildervanck-Smith syndrome or postaxial acrofacial dystosis . The incidence of this condition is not known but it is considered extremely rare...

, Treacher-Collins
Treacher Collins syndrome
Treacher Collins syndrome , also known as Treacher Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher Collins syndrome is found in about 1 in 10,000 births, ....

, Pierre-Robin
Pierre Robin syndrome
Pierre Robin Sequence , also known as Pierre Robin Malformation, is a congenital condition of facial abnormalities in humans. PRS is a sequence: a chain of certain developmental malformations, one entailing the next...

, Genee-Wiedemann, and Franceschetti-Zwahlen-Klein.
The source of this article is wikipedia, the free encyclopedia.  The text of this article is licensed under the GFDL.
 
x
OK