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Hypoplastic facial bones
- ... TRPS1 gene is thought to cause the other bone and facial abnormalities. Deletion of the RAD21 gene may contribute to ...
- ... of bone and other tissues, leading to abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms of TRPS ...
- ... TRPS1 gene is thought to cause the other bone and facial abnormalities. Deletion of the RAD21 gene may contribute to ...
- ... in late childhood and may include mildly "coarse" facial features, mild bone abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark ...
- ... which is characterized by severe intellectual disability, distinctive facial features, and bone abnormalities that primarily involve the ribs and spinal bones ( ...
- Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, short stature, and other features. The term osteoglophonic ...
- ... cause Nager syndrome, which is primarily characterized by abnormalities of the face, hands, and arms, such as underdeveloped cheek bones (malar hypoplasia), a small lower jaw (micrognathia), and ...
- ... growth, people with TRPS1 gene mutations develop abnormal bones in the fingers and toes, joint abnormalities, distinctive facial features, and other signs and symptoms of TRPS ...
- Craniofacial Abnormalities (National Library of Medicine)... is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. ... rare. Most of them affect how a person's face or head looks. These conditions may ... Plastic and reconstructive surgery may help the person's appearance.
- ... infertility. Severe cases are also characterized by skeletal abnormalities, particularly involving bones of the head and face. These include premature fusion of the skull bones ( ...