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Results 31 - 40 of 160 for Short ear
  1. NOG gene 
    ... the digit. Other signs and symptoms include abnormally short middle fingers, webbed toes, and hearing loss that is due to fusion of the bones in the ears (stapes fixation).Multiple synostoses syndrome 1 is characterized ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  2. Aicardi syndrome 
    ... Aicardi syndrome have unusual facial features including a short area between the upper lip and the nose (philtrum), a flat nose with an upturned tip, large ears, and sparse eyebrows. Other features of this condition ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  3. Smith-Magenis syndrome 
    ... signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), obesity, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  4. Noonan syndrome with multiple lentigines 
    ... with Noonan syndrome with multiple lentigines have significantly short stature.Other signs and symptoms of Noonan syndrome with multiple lentigines include hearing loss caused by abnormalities in the inner ear (sensorineural deafness), mild intellectual disability, and extra folds ...
    https://medlineplus.gov/.../noonan-syndrome-with-multiple-lentigines - Genetics
  5. FGF3 gene 
    ... the FGF3 protein or lead to an abnormally short protein. The altered protein likely has reduced or absent function, making it unable to stimulate signaling within cells. The loss of FGF3 function impairs development of the ears and teeth, which leads to the characteristic features ...
    https://medlineplus.gov/genetics/gene/fgf3 - Genetics
  6. CDH23 gene 
    ... are made in different cell types, including a short version in the retina, which is the light-sensitive layer in the back of the eye, and a longer version in the inner ear. Cadherin 23 interacts with other proteins in the ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
  7. Cerebro-facio-thoracic dysplasia 
    ... in cerebro-facio-thoracic dysplasia include a wide, short skull (brachycephaly); highly arched eyebrows or eyebrows that grow together in the middle (synophrys); widely spaced eyes (hypertelorism); a wide nasal bridge; low-set ears; an upper lip with pronounced curves (Cupid's ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  8. Blepharophimosis, ptosis, and epicanthus inversus syndrome 
    ... features including a broad nasal bridge, low-set ears, or a shortened distance between the nose and upper lip (a short philtrum).There are two types of BPES, which ...
    https://medlineplus.gov/...s-ptosis-and-epicanthus-inversus-syndrome - Genetics
  9. Mucopolysaccharidosis type VII 
    ... VII, leading to frequent upper respiratory infections and short pauses in ... recurrent ear infections and hearing loss. Affected individuals may have ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vii - Genetics
  10. 1p36 deletion syndrome 
    ... nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped.People with 1p36 deletion syndrome often have unusually short fingers and toes (brachydactyly), permanently bent fingers and ...
    https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome - Genetics
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