Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.

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.

Enlarged and tortuous veins.

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Accumulation of fluid in the peritoneal cavity.

In its rare complete form, 'prune belly' syndrome (PBS) comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al., 2011).

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

An abnormality of the pinna, which is also referred to as the auricle or external ear.

A decreased magnitude of the sensory perception of sound.

Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.

A bacterial infection and inflammation of the skin und subcutaneous tissues.

Developmental hypoplasia of the mandible.

The presence of an abnormal lateral curvature of the spine.

A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.

Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.

The presence of an excessive amount of fluid in the pleural cavity.

Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.

Abnormal increased size of the spleen.

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.

Localized fluid retention and tissue swelling caused by a compromised lymphatic system.

A buildup of fluid that causes swelling in the soft tissues of the genital area.

Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.

Edema affecting the region situated around the orbit of the eye.

Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.

Swelling due to an excessive accumulation of fluid in facial tissues.

Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).

The presence of excess amniotic fluid in the uterus during pregnancy.

Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).

Deficiency of thyroid hormone.