Congenital anomalies of the newborn are malformations of the newborn diagnosed prenatally or after delivery.
The following is a list of congenital anomalies:
Anencephaly Partial or complete absence of the brain and skill. Also called anencephalus, acrania, or absent brain. Babies with craniorachischisis (anencephaly with contiguous spine defect should also be included in this category.
Meningomyclocele/Spina Bifida Spina bifida refers to herniation of the meninges and/or spinal cord tissue through a bony defect of spine closure. Meningomyelocele refers to merniation of meninges and spinal cord tissue. Babies with meningocele (herniation of meninges without spinal cord tissue) should also be included in the category. Both open and closed (covered with skin) lesions should be included. Spina bifida occulta (a midline bony spinal defect without protrusion of the spinal cord or meninges) should not be included in this category.
Cyanotic congenital heart disease Congenital heart defects which cause cyanosis. Includes but is not limited to transposition of the great arteries (vessels), teratology of Fallot, pulmonary or pulmonic valvular atresia, tricuspid atresia, truncus arteriosus, total/partial anomalous pulmonary venous return with or without obstruction.
Congenital diaphragmatic hernia Defect in the formation of the diaphragm allowing herniation of abdominal organs into the thoracic cavity
Omphalocele A defect in the anterior abdominal wall, accompanied by herniation of some abdominal organs through a widened umbilical ring into the umbilical stalk. The defect is covered by a membrane (different from gastroschisis) although this sac may rupture. Also called exomphalos. Umbilical hernia (completely covered by skin) should not be included in this category.
Gastroschisis An abnormality of the anterior abdominal wall,k lateral to the umbilicus, resulting in herniation of the abdominal contents directly into the amniotic cavity. Differentiated from omphalocele by the location of the defect and absence of a protective membrane.
Limb reduction defect (excluding congenital amputation and dwarfing syndromes) Complete or partial absence of a portion of an extremity secondary to failure to develop.
Cleft Lip with or without Cleft Palate Cleft lip with or without cleft palate refers to incomplete closure of the lip. Cleft lip may be unilateral, bilateral or median; all should be included in this category.
Cleft Palate alone Cleft palate refers to incomplete fusion of the palatal shelves. This my be limited to the soft palate or may also extend into the hard palate. Cleft palate in the presence of cleft lip should be included in the "Cleft Lip with or without Cleft Palate" category, rather than here.
Down Syndrome Trisomy 21
Suspected chromosomal disorder Includes any constellation of congenital malformations resulting from a compatible with known syndromes cause by detectable defects in chromosome structure.
Hypospadias Incomplete closure of the male urethra resulting in the urethral meatus opening on the ventral surface of the penis. Includes first degree - on the glans ventral to the tip, second degree - in the coronal sulcus and third degree - on the penile shaft.