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Results 1 - 10 of 86 for Ear malformation
  1. Townes-Brocks Syndrome 
    ... of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. People with ... cell is sufficient to cause the disorder. Anal-ear-renal-radial malformation syndrome Deafness-imperforate anus-hypoplastic thumbs syndrome Imperforate ...
    https://medlineplus.gov/genetics/condition/townes-brocks-syndrome - Genetics
  2. Fusion of the ear bones 
    ... Related topics include: Chronic ear infection Otosclerosis Middle ear malformations
    https://medlineplus.gov/ency/article/001633.htm - Medical Encyclopedia
  3. Branchiootorenal/branchiootic syndrome 
    ... development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this ...
    https://medlineplus.gov/.../branchiootorenal-branchiootic-syndrome - Genetics
  4. SALL1 gene 
    ... of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations. It is uncertain how these mutations result in ...
    https://medlineplus.gov/genetics/gene/sall1 - Genetics
  5. CHARGE syndrome 
    ... as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations varies among individuals with this disorder, and the ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  6. Chromosome 22 
    ... pits in front of the ear, unusually formed ears, heart defects, kidney problems, malformations of the anus, and, in some cases, delayed ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  7. Low-set ears and pinna abnormalities 
    Haddad J, Dodhia SN. Congenital malformations of the ear. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics . 21st ed. Philadelphia, ...
    https://medlineplus.gov/ency/article/003303.htm - Medical Encyclopedia
  8. EYA1 gene 
    ... development of tissues in the neck and causes malformations of the ears and kidneys. EYA1 gene mutations have also been found to cause branchiootic (BO) syndrome, which includes many of the same ... (renal) malformations. The two conditions are otherwise so similar that ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  9. SIX1 gene 
    ... development of tissues in the neck and causes malformations of the ears and kidneys. A few SIX1 gene mutations have also been found to cause branchiootic (BO) syndrome, which includes many of ... (renal) malformations. The two conditions are otherwise so similar that ...
    https://medlineplus.gov/genetics/gene/six1 - Genetics
  10. SIX5 gene 
    ... development of tissues in the neck and causes malformations of the ears and kidneys. BOR syndrome is considered part of a disease spectrum with a condition known as branchiootic (BO) syndrome, which ... malformations.Researchers now question whether mutations in the SIX5 ...
    https://medlineplus.gov/genetics/gene/six5 - Genetics
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