The presence of dilatation of the renal pelvis.

Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.

Enlargement or increased size of the heart left ventricle.

Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Slow or limited growth after birth.

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

Underdevelopment of the external ear.

Abnormal accumulation of fluid in the brain.

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.

Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

An abnormality in which the mandible is mislocalised posteriorly.

Reduced depth of the orbits associated with prominent-appearing ocular globes.

A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.

An outward turning (eversion) or rotation of the eyelid margin.

The palpebral fissure inclination is more than two standard deviations below the mean.

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.

A turning outward of the lip or lips, that is, eversion of the lips.

Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.

The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.

Skin characterized by the lack of natural or normal moisture.

Birth at 32 to 36 completed weeks of gestation.

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).

An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.

A polar cataract that affects the anterior pole of the lens.