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Genetic Disorders and Defects

Discover the conditions we treat and treatments we provide at Children's National Hospital. Providers at Children's National work with you and your family to decide on the best care plan for your child. Learn more about the Rare Disease Institute.

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. Learn more about this condition.

Biotinidase Deficiency

This inherited disorder is characterized by a deficiency of the biotinidase enzyme. This enzyme is important in metabolizing biotin, a B vitamin. Learn more about this condition.

Birth Defects

A birth defect (congenital anomaly) is a health problem or abnormal physical change that is present when a baby is born. Learn more about this condition.

Carpenter Syndrome

Carpenter syndrome is an extremely rare congenital (present at birth) disorder that causes abnormal growth of a baby’s skull, fingers, and toes. Learn more about the symptoms, causes and treatments for Carpenter syndrome.

Cleft Lip/Cleft Palate

Cleft lip is a split in the lip, while cleft palate is a split in the roof of the mouth. Discover more about diagnosis, complications and treatment options.

Cloverleaf Deformity

Cloverleaf deformity is an extremely rare skull deformity that happens when several joints (sutures) between a baby's skull bones begin to fuse too early, which causes bulging at the front and sides of the skull, resembling a cloverleaf shape. Learn more about this condition.

Clubbed Foot

Clubbed foot is a congenital condition in which the foot is usually short and broad in appearance and the heel points downward while the front half of the foot (forefoot) turns inward. Learn more about this condition.

Craniofacial Disorder

Craniofacial disorder describes malformations of the face and skull that may result from birth defect, disease or trauma. Learn about the different types of craniofacial disorders and how they can be treated.

Pediatric 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.