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Genetic Disorders and Defects

Deformational Plagiocephaly

Deformational (or positional) plagiocephaly refers to a misshapen shape of the head from repeated pressure to the same area of the head.

Diaphragmatic Hernia

A diaphragmatic hernia is a birth defect, which is an abnormality that occurs before birth as a fetus is forming in the mother's uterus.

Marfan Syndrome

Marfan syndrome is a disorder involving the body's connective tissue. 

Microtia

Microtia is a condition in which a child is born with an ear or ears deformed or absent.

Mosaic Down Syndrome

Mosaicism, used to describe the presence of more than one type of cell in a person, is usually described as a percentage.

Multifactorial Inheritance

Multifactorial inheritance means that many factors (multifactorial) are involved in causing a birth defect. 

Multisuture Synostosis

Learn more about the symptoms, causes and treatments for multisuture synostosis, a congenital disorder affecting brain growth and head shape.

Omphalocele

An omphalocele is a birth defect in which some of the abdominal organs protrude through an opening in the abdominal muscles in the area of the umbilical cord. A translucent membrane covers the protruding organs.

Pfeiffer Syndrome

Learn more about the symptoms, causes and treatments for Pfeiffer syndrome, a bone disorder that affects the head and face.