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Results 1 - 10 of 52 for Abnormality of head or neck
  1. Sepiapterin reductase deficiency 
    ... muscle spasms, and uncontrolled movements, especially of the head and neck. Movement abnormalities are often worse late in the day. Most affected individuals have delayed development of motor skills such as ... (microcephaly), intellectual disability, seizures, excessive sleeping, and ...
    https://medlineplus.gov/.../sepiapterin-reductase-deficiency - Genetics
  2. Craniofacial microsomia 
    ... TJ, Healy GB. Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia. Arch Otolaryngol Head Neck Surg. 2001 Mar;127(3):265-71. doi: ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  3. CHARGE syndrome 
    ... difficulty breathing. Affected individuals frequently have cranial nerve abnormalities. The cranial nerves emerge directly from the brain and extend to various areas of the head and neck, controlling muscle movement and transmitting sensory information. Abnormal ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  4. Familial thoracic aortic aneurysm and dissection 
    ... the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  5. Monilethrix 
    ... have normal hair at birth, but the hair abnormalities develop within the first few months of life. In mild cases of monilethrix, only hair on the back of the head (occiput) or nape of the neck is affected. In more severe cases, hair over ...
    https://medlineplus.gov/genetics/condition/monilethrix - Genetics
  6. NOTCH1 gene 
    ... Notch1 function leads to the scalp and limb abnormalities characteristic of the ... percent of head and neck squamous cell carcinomas (HNSCC). This type of cancerous ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  7. Klippel-Feil syndrome 
    ... vertebrae can lead to nerve damage in the head, neck, or back. Over time, ... abnormalities may cause abnormal sensations or involuntary movements in ...
    https://medlineplus.gov/genetics/condition/klippel-feil-syndrome - Genetics
  8. Fanconi anemia 
    ... are infertile). Additional signs and symptoms can include abnormalities of the ... neck, skin, gastrointestinal system, or genital tract. The likelihood ...
    https://medlineplus.gov/genetics/condition/fanconi-anemia - Genetics
  9. HRAS gene 
    ... This Health Condition MedlinePlus Genetics provides ... above) in addition to abnormalities of the brain, eyes, or bones. Problems with ...
    https://medlineplus.gov/genetics/gene/hras - Genetics
  10. Dyskeratosis congenita 
    ... of developing other cancers, especially cancers of the head, neck, anus, or ... include eye abnormalities such as narrow tear ducts that may become ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
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