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Genetic Disorders and Defects
People with Angelman syndrome have an unusual facial appearance, short stature, severe intellectual disability with a lack of speech, stiff arm movements, and a spastic, uncoordinated walk. They may have seizures and often have inappropriate outbursts of laughter.
An inherited disorder characterized by a deficiency of the biotinidase enzyme needed to metabolize a B vitamin.
A "birth defect" is a health problem or physical change, which is present in a baby at the time he or she is born.
Learn more about the symptoms, causes and treatments for Carpenter syndrome.
Cleft lip and cleft palate are birth abnormalities of the mouth and lip. In the United States, nearly 6,800 babies are born with oral-facial clefts annually.
Learn more about the symptoms, causes and treatments for Cloverleaf deformity, an extremely rare skill deformity.
Clubfoot is a birth defect caused by many factors, which are usually both genetic and environmental.
"Craniofacial disorder" is a broad term that describes malformations of the face and skull that may result from birth defect, disease or trauma.
Learn more about the symptoms, causes and treatments for craniosynostosis, a condition that affects skull bone growth.
Learn more about the symptoms, causes and treatments for Crouzon syndrome, a rare birth defect of the joints.