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Abnormality of the face
- ... legs or are shorter than their peers.Skin abnormalities are also common in terminal osseous dysplasia. Many individuals with the condition have dark patches of skin on their face, often near the temples. In addition, affected infants ...
- ... syndrome.Some people with Proteus syndrome have neurological abnormalities, including intellectual disability, seizures, and vision loss. Affected individuals may also have distinctive facial features such as a long face, outside corners of the eyes that point downward ( ...
- ... bone growth occurs (the metaphyses). Occasionally, other skeletal abnormalities occur, including short stature and premature fusion of certain skull bones (craniosynostosis) that affects the shape of the head and face. Affected individuals may also have a small rib ...
- ... development, particularly the formation of bones in the face, spine, and limbs. These changes lead to the skeletal abnormalities characteristic of Robinow syndrome. A lack of this ...
- ... lung collapse.Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in ...
- ... above). Terminal osseous dysplasia is characterized by skeletal abnormalities in the hands and feet, noncancerous (benign) tumors on the fingers and toes (digits), and dark patches of skin on the face. The FLNA gene variant that causes terminal osseous ...
- ... small chin, and low-set ears. Overall, the face is broad and long, and the facial features are sometimes described as "coarse."Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. Many ...
- ... syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.Many of the characteristic facial features of Jackson- ...
- ... eyes.Individuals with Manitoba oculotrichoanal syndrome usually have abnormalities of the front hairline, such as hair growth extending from the temple to the eye on one or both sides of the face. One or both eyebrows may be completely or ...
- ... getting smaller as the body grows (progressive microcephaly). Abnormalities in facial features also become increasingly pronounced with lack of normal head growth. These facial differences include a relatively long and narrow face; deep-set, widely-spaced eyes; elongated openings of ...
