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Results 71 - 80 of 217 for Abnormality of the face
  1. HPSE2 gene 
    ... that the genetic changes may lead to an abnormality in this brain region that may account ... heparanase ...
    https://medlineplus.gov/genetics/gene/hpse2 - Genetics
  2. WASHC5 gene 
    ... 3C syndrome because it affects craniofacial (head and face), cerebellar (brain), and cardiovascular (heart) development. People with 3C syndrome often have Dandy-Walker malformation, which is a structural abnormality of the part of the brain that coordinates ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  3. Stickler syndrome 
    ... are characterized by a distinctive facial appearance, eye abnormalities, ... middle of the face. A particular group of physical features called Pierre ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  4. Melnick-Needles syndrome 
    ... micrognathia), and misaligned teeth. One side of the face may appear noticeably different from the other (facial asymmetry). Some individuals with this disorder have hearing loss.In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome may have obstruction ...
    https://medlineplus.gov/genetics/condition/melnick-needles-syndrome - Genetics
  5. Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay 
    ... have distinctive facial features. These include a triangular face shape with a prominent forehead and deep-set eyes (ocular depression), thin nostrils, a downturned mouth, and a small chin. Eye abnormalities are common in affected individuals, particularly Rieger anomaly, ...
    https://medlineplus.gov/...ression-rieger-anomaly-and-teething-delay - Genetics
  6. ZMPSTE24 gene 
    ... have tight, rigid skin; underdeveloped lungs; and other abnormalities. They do not usually ... protease 1 homolog FACE-1 FACE1 FACE1_HUMAN farnesylated proteins-converting enzyme ...
    https://medlineplus.gov/genetics/gene/zmpste24 - Genetics
  7. Yao syndrome 
    ... autoimmune diseases; these two groups of diseases involve abnormalities in ... occurs most commonly on the face, chest, and back but can also affect the ...
    https://medlineplus.gov/genetics/condition/yao-syndrome - Genetics
  8. Potocki-Lupski syndrome 
    ... include vision and hearing problems, dental and skeletal abnormalities, and ... fissures), a triangular face with a broad forehead and a small jaw ( ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  9. Age-related macular degeneration 
    ... loss in older people in developed countries. Subtle abnormalities indicating ... and recognizing faces. The vision loss in this condition results from ...
    https://medlineplus.gov/.../age-related-macular-degeneration - Genetics
  10. Char syndrome 
    ... a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.Most people with Char syndrome have a characteristic ...
    https://medlineplus.gov/genetics/condition/char-syndrome - Genetics
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