Severe distention of the kidney with dilation of the renal pelvis and calices.

Congenital anomaly characterized by closure or failure to develop an opening in the urethra.

Aplasia of the uterus.

Aplasia of the vagina.

Lack of external genitalia in a male or female individual.

Distention of the abdomen.

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.

Protrusion of the contents of the abdominal cavity through the inguinal canal.

The presence of an abnormal lateral curvature of the spine.

An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.

Absence of one half of the vertebral body.

Complete or partial merging of adjacent ribs.

A developmental anomaly with absence of one or more ribs.

Reduced rib length.

Ribs with a reduced diameter.

Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).

A developmental defect leading to the union of two adjacent vertebrae.

A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.

Diminished length of the neck.

Diminished amniotic fluid volume in pregnancy.

Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).