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Abnormality of the head
- ... roof of the mouth, dental abnormalities, or other abnormalities of the head and face (craniofacial anomalies). Some of these mutations ...
- ... have been shown to cause other conditions with abnormalities affecting the head and face (craniofacial malformations), so craniofacial development is ...
- ... bone growth (hyperostosis), which leads to multiple skeletal abnormalities including an unusually large head (macrocephaly) and abnormal facial features. Males who survive ...
- ... Baraitser syndrome. This condition is characterized by multiple abnormalities, primarily sparse scalp hair, small head size (microcephaly), distinctive facial features, short stature, abnormal ...
- ... found only in females, is characterized by skull abnormalities that affect the shape of the head and face, a lack of fatty tissue under ...
- ... growing normally and affects the shape of the head and face. Abnormalities of the hands and feet are also frequent, ...
- ... of the skull (craniosynostosis), leading to a misshapen head, distinctive facial features, and brain abnormalities. Affected individuals often have abnormalities of the fingers ...
- ... paralysis), changes in heart rhythm (arrhythmia), and physical abnormalities affecting the face, other parts of the head, and the limbs. Most of the mutations change ...
- ... and soles of the feet, an unusually large head size (macrocephaly), and skeletal abnormalities. More About This Health Condition The PTCH1 gene ...
- ... the brain, causing an unusually large brain and head size (megalencephaly) and other abnormalities of the brain's structure. Some affected individuals ...