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Results 61 - 70 of 217 for Abnormality of the face
  1. Distal 18q deletion syndrome 
    ... from birth (congenital heart defects), kidney problems, genital ... middle of the face (midface hypoplasia), a wide mouth, and prominent ears. ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  2. PGM3-congenital disorder of glycosylation 
    ... muscle tone (hypotonia). Many affected individuals have skeletal abnormalities ... (midface hypoplasia), small chin (micrognathia), full lips, downturned ...
    https://medlineplus.gov/...pgm3-congenital-disorder-of-glycosylation - Genetics
  3. GNAQ gene 
    ... port-wine birthmarks without the brain or eye abnormalities that are often associated with Sturge-Weber syndrome (described above). As in Sturge-Weber syndrome, isolated port-wine birthmarks caused by a GNAQ gene mutation are usually on one side of the face but can be on both sides. It is ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  4. Focal dermal hypoplasia 
    ... is called a coloboma. Some of these eye abnormalities do not impair vision, ... face (facial asymmetry). These facial characteristics are typically very ...
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia - Genetics
  5. Schinzel-Giedion syndrome 
    ... facial features, neurological problems, and organ and bone abnormalities. Because of ... the middle of the face looks as though it has been drawn inward ( ...
    https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome - Genetics
  6. Snyder-Robinson syndrome 
    ... of the right and left sides of the face (facial asymmetry). Other signs and symptoms that have been reported include seizures that begin in childhood and abnormalities of the genitalia and kidneys. Snyder-Robinson syndrome ...
    https://medlineplus.gov/genetics/condition/snyder-robinson-syndrome - Genetics
  7. Axenfeld-Rieger syndrome 
    ... as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than ...
    https://medlineplus.gov/genetics/condition/axenfeld-rieger-syndrome - Genetics
  8. CHARGE syndrome 
    ... unusually small penis (micropenis) and undescended testes (cryptorchidism). ... a square-shaped face and differences in appearance between the right and ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  9. CUL3-related neurodevelopmental disorder 
    ... condition that affects communication and social skills. Movement abnormalities ... triangular-shaped face; a large forehead; a large, rounded nose; small ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  10. Ochoa syndrome 
    ... that the genetic changes may lead to an abnormality in this brain region that may ... function in the face and bladder.Some people with Ochoa syndrome do ...
    https://medlineplus.gov/genetics/condition/ochoa-syndrome - Genetics
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