Deformational Plagiocephaly Deformational plagiocephaly (flat head syndrome) is when a baby’s head develops a lasting flat spot. Learn more about this condition.
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.
Lysosomal Storage Disorders Learn more about the causes, symptoms and treatments for lysosomal storage disease, a genetic condition.
Mosaic Down Syndrome Mosaicism, or mosaic Down syndrome, is diagnosed when there is a mixture of two types of cells. Learn more about this condition.
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.
Phenylketonuria (PKU) PKU is a recessive disorder which occurs in about one in 10,000 to 15,000 live births and is caused by a deficiency of the enzyme phenylalanine hydroxylase.