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Results 21 - 30 of 61 for Ear malformation
  1. Pendred syndrome 
    ... is a snail-shaped structure in the inner ear that helps process sound. The combination of an enlarged vestibular aqueduct and an abnormally shaped cochlea is known as Mondini malformation.Pendred syndrome shares features with other hearing loss ...
    https://medlineplus.gov/genetics/condition/pendred-syndrome - Genetics
  2. 2q37 deletion syndrome 
    ... philtrum), prominent cheekbones, a large chin, and minor ear abnormalities.Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. Some affected individuals have malformations of the brain, heart, gastrointestinal system, kidneys, or ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  3. Lacrimo-auriculo-dento-digital syndrome 
    ... defects in the tear-producing lacrimal system (lacrimo-), ear problems ... Lacrimal system malformations that can occur with LADD syndrome include an ...
    https://medlineplus.gov/.../lacrimo-auriculo-dento-digital-syndrome - Genetics
  4. Duane-radial ray syndrome 
    ... the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include unusually shaped ears, hearing loss, heart and kidney defects, a distinctive ...
    https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome - Genetics
  5. PACS1 syndrome 
    ... and upper lip (philtrum), widely spaced teeth, and ears that are low-set with fewer folds and grooves than normal (described as "simple"). Abnormalities of other body systems can also occur, such as malformations of the heart, brain, eyes, or other organs. ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
  6. Craniofacial-deafness-hand syndrome 
    ... that is caused by abnormalities in the inner ear (sensorineural deafness). Hearing loss in these individuals is present from birth.In affected individuals, a common abnormality of the muscles in the hand is a malformation in which all of the fingers are angled ...
    https://medlineplus.gov/.../craniofacial-deafness-hand-syndrome - Genetics
  7. Blepharophimosis, ptosis, and epicanthus inversus syndrome 
    ... features including a broad nasal bridge, low-set ears, or a shortened ... include the eyelid malformations and other facial features. Type I is also ...
    https://medlineplus.gov/...s-ptosis-and-epicanthus-inversus-syndrome - Genetics
  8. Fraser syndrome 
    ... can be involved in Fraser syndrome, including heart malformations or abnormalities of the voicebox (larynx) or other parts of the respiratory tract. Some affected individuals have facial abnormalities, including ear or nose abnormalities or an opening in the ...
    https://medlineplus.gov/genetics/condition/fraser-syndrome - Genetics
  9. Frontonasal dysplasia 
    ... anophthalmia) or very small (microphthalmia) and low-set ears that are ... of the malformations and whether or not surgical intervention can improve ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  10. Cold-induced sweating syndrome 
    ... palate), a small chin (micrognathia), and low-set ears. The muscles in the ... hands, and malformations of the feet and toes. Affected infants startle ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
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