Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.

Recurrent or persistent genital pain associated with sexual intercourse.

Developmental hypoplasia of the clitoris.

Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.

A dislocation of the head of the radius from its socket in the elbow joint.

Underdevelopment of the humerus.

Underdevelopment of the fibula.

An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).

A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.

Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

Underdevelopment of the distal portion of the humerus.

Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.

A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).

A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.

Developmental hypoplasia of the mandible.

The presence of an abnormal lateral curvature of the spine.

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).

Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.

A non-midline cleft of the upper lip on the left and right sides.

A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.

Posterior positioning of the nasal root in relation to the overall facial profile for age.

Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.

Increased breadth of the nasal bridge (and with it, the nasal root).

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

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).