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Results 1 - 10 of 20 for Abnormal facial shape
  1. ASXL1 gene 
    ... cause Bohring-Opitz syndrome, a condition that causes abnormal head size and shape, distinctive facial features, joint abnormalities, intellectual disability, and other signs ...
    https://medlineplus.gov/genetics/gene/asxl1 - Genetics
  2. PLCB4 gene 
    ... more like the smaller upper jaw (maxilla). The abnormal shape leads to an unusually small chin (micrognathia) and ...
    https://medlineplus.gov/genetics/gene/plcb4 - Genetics
  3. GNAI3 gene 
    ... more like the smaller upper jaw (maxilla). The abnormal shape leads to an unusually small chin (micrognathia) and ...
    https://medlineplus.gov/genetics/gene/gnai3 - Genetics
  4. TWIST1 gene 
    ... the skull from growing normally and affects the shape of the head and face. Abnormalities of the hands and feet are also ... eyelids and ears, unusually small bones in the face and jaw, and abnormal development or fusion of skull bones. Both mutations ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  5. EFNB1 gene 
    ... the skull (craniosynostosis) during development, which affects the shape of the head and face. Females with craniofrontonasal syndrome typically have more severe ...
    https://medlineplus.gov/genetics/gene/efnb1 - Genetics
  6. PTCH1 gene 
    ... and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/ptch1 - Genetics
  7. SLC25A24 gene 
    ... is characterized by skull abnormalities that affect the shape of the head and face, a lack of fatty tissue under the skin ( ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics
  8. LMNA gene 
    ... hips, and excess fat is deposited in the face, neck, and abdomen. The abnormal fat storage is related to changes in the ... mutations responsible for this disorder result in an abnormal version of prelamin ... it disrupts the shape of the nuclear envelope. Over time, a buildup ...
    https://medlineplus.gov/genetics/gene/lmna - Genetics
  9. NOTCH2 gene 
    ... the disorder, including acro-osteolysis, osteoporosis, and distinctive facial features, likely result from abnormal bone development and remodeling. Excess signaling through the ...
    https://medlineplus.gov/genetics/gene/notch2 - Genetics
  10. CREBBP gene 
    ... syndrome, which is characterized by intellectual disability, distinctive facial features (different from those of Rubinstein-Taybi syndrome, described above), abnormal thumbs, and rigid joints (arthrogryposis). Some affected individuals ...
    https://medlineplus.gov/genetics/gene/crebbp - Genetics
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