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Results 11 - 20 of 146 for Aplasia of facial bones
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  1. Hajdu-Cheney syndrome 
    ... to short stature.Hajdu-Cheney syndrome also causes abnormalities of the skull bones, including the bones of the face. The shape of the skull is often described ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  2. Rhizomelic chondrodysplasia punctata 
    ... The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). Affected ...
    https://medlineplus.gov/.../rhizomelic-chondrodysplasia-punctata - Genetics
  3. Cerebro-facio-thoracic dysplasia 
    ... thoracic dysplasia, which include severe intellectual disability, distinctive facial features, and abnormalities of the ribs and spinal bones (vertebrae).In addition to intellectual disability, individuals with ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  4. Char syndrome 
    ... heart defect called patent ductus arteriosus, and hand abnormalities.Most people with Char syndrome have a characteristic facial appearance that includes flattened cheek bones and a flat nasal bridge (the area of ...
    https://medlineplus.gov/genetics/condition/char-syndrome - Genetics
  5. Craniofacial-deafness-hand syndrome 
    ... hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected individuals often have underdeveloped or absent nasal bones resulting in a small nose, thin nostrils, and ...
    https://medlineplus.gov/.../craniofacial-deafness-hand-syndrome - Genetics
  6. Pfeiffer syndrome 
    ... 2 or 3 can have fusion of the bones (ankylosis) in 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
  7. Weissenbacher-Zweymüller syndrome 
    Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  8. Branchio-oculo-facial syndrome 
    ... commonly affected, resulting in malformed or prominent ears. Abnormalities of the inner ear or of the tiny bones in the ears (ossicles) can cause hearing loss in people with this condition.Branchio-oculo-facial syndrome can affect other structures and tissues as ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  9. Hartsfield syndrome 
    ... certain bones of the skull (craniosynostosis), heart defects, abnormalities of the bones of the spine (vertebrae), and abnormal genitalia. Some affected individuals have distinctive facial features, including eyes that are widely spaced (hypertelorism) ...
    https://medlineplus.gov/genetics/condition/hartsfield-syndrome - Genetics
  10. Atelosteogenesis type 1 
    ... cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes ( ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 - Genetics
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