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Genetic Disorders and Defects

Angelman Syndrome

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.

Biotinidase Deficiency

An inherited disorder characterized by a deficiency of the biotinidase enzyme needed to metabolize a B vitamin.

Birth Defects

A "birth defect" is a health problem or physical change, which is present in a baby at the time he or she is born.

Carpenter Syndrome

Learn more about the symptoms, causes and treatments for Carpenter syndrome.

Cleft Lip/Cleft Palate

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.

Cloverleaf Deformity

Learn more about the symptoms, causes and treatments for Cloverleaf deformity, an extremely rare skill deformity.

Clubbed Foot

Clubfoot is a birth defect caused by many factors, which are usually both genetic and environmental.

Craniofacial Disorder

"Craniofacial disorder" is a broad term that describes malformations of the face and skull that may result from birth defect, disease or trauma.

Craniosynostosis

Learn more about the symptoms, causes and treatments for craniosynostosis, a condition that affects skull bone growth.

Crouzon Syndrome

Learn more about the symptoms, causes and treatments for Crouzon syndrome, a rare birth defect of the joints.