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Nager syndrome
What are the symptoms?
The milder type affects the face and ears in a similar way to Treacher Collins syndrome with an under developed lower jaw and small external ears.
In some children this can lead to feeding and breathing difficulties. Cleft palate may occur and hearing problems are frequent (see Deafness). The limb abnormalities are usually confined to the hands and forearms; the thumbs may be absent or under developed (see Upper Limb Abnormalities). Intelligence is usually normal.
The severe types are likely to be due to different gene abnormalities. Most babies do not survive. The facial abnormalities are very severe and there is a shortening of all four limbs with digits missing.
Background
| Inheritance patterns and prenatal diagnosis 
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