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Results 1 - 10 of 216 for Abnormality of the face
  1. Mandibulofacial dysostosis with microcephaly 
    ... with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually ... problems are also common in this disorder.Facial abnormalities that occur in ... middle of the face and the cheekbones (midface and malar hypoplasia) and ...
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly - Genetics
  2. Isolated Pierre Robin sequence 
    Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways. ...
    https://medlineplus.gov/.../condition/isolated-pierre-robin-sequence - Genetics
  3. Osteoglophonic dysplasia 
    ... bone growth that leads to severe head and face (craniofacial) abnormalities, short stature, and other features. The term osteoglophonic ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
  4. Robinow syndrome 
    ... their family. Acral dysostosis with facial and genital abnormalities Fetal face syndrome Mesomelic dwarfism-small genitalia syndrome Robinow dwarfism ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  5. TWIST1 gene 
    ... and affects the shape of the head and face. Abnormalities of the hands and feet are also frequent, ... development and maturation of cells in the skull, face, arms and legs. These abnormalities underlie the signs and symptoms of Saethre-Chotzen ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  6. Bosma arhinia microphthalmia syndrome 
    ... lenses of the eyes (cataracts).Additional head and face abnormalities that can occur in people with BAMS include ... genes involved in development of the head and face, which could underlie ... facial abnormalities of BAMS. Problems with nasal development may affect ...
    https://medlineplus.gov/.../bosma-arhinia-microphthalmia-syndrome - Genetics
  7. SF3B4 gene 
    ... cause Nager syndrome, which is primarily characterized by abnormalities of the face, hands, and arms, such as underdeveloped cheek bones ( ... disorder that causes underdevelopment of bones in the face, arms, and legs ... abnormalities. Affected individuals have abnormally short arm bones, such ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics
  8. Craniofacial microsomia 
    ... two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  9. Pfeiffer syndrome 
    ... the elbow or other joints, limiting mobility, and abnormalities of the face and airways, which can cause life-threatening breathing ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  10. KCNJ2 gene 
    ... paralysis), changes in heart rhythm (arrhythmia), and physical abnormalities affecting the face, other parts of the head, and the limbs. ...
    https://medlineplus.gov/genetics/gene/kcnj2 - Genetics
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