Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).

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

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

Ossification of carpal bones occurs later than age-adjusted norms.

A kind of short stature in which different regions of the body are shortened to differing extents.

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

A cystic lesion located in the liver.

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.

A type of Developmental delay characterized by a delay in acquiring motor skills.

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.

An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.

Underdevelopment of the proximal epiphysis of the femur.

A flattened vertebral body shape with reduced distance between the vertebral endplates.

Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.

Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.

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

The presence of dysplastic regions in metaphyseal regions.

An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.

Increased count of eosinophils in the blood.

A reduced number of lymphocytes in the blood.

A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.

Increased susceptibility to infections.

An abnormally decreased level of immunoglobulin in blood.

Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.

Increase in width of the nasal tip.

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

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.

Increased prominence or roundness of soft tissues between zygomata and mandible.

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).