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.

A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

Developmental hypoplasia of the mandible.

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.

An abnormal narrowing of the spinal canal.

Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.

A recurrent form of sinusitis.

An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.

Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007). Genetic Heterogeneity of Atopic Dermatitis Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.

Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.

Increased count of eosinophils in the blood.

Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.

A circumscribed area of pus or necrotic debris in the skin.

Decreased levels of immunoglobulin A (IgA).

An abnormally increased overall level of immunoglobulin E in blood.

Increased susceptibility to infections.

Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.

An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.

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

Infections of the skin that happen multiple times.

Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

Any abnormality of the teeth.

Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.

A noncongenital process of hair loss, which may progress to partial or complete baldness.

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

Skin characterized by the lack of natural or normal moisture.