Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.

A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).

The presence of bilateral coxa valga.

Abnormally low body weight.

Hard, pebble-like deposits that form within the gallbladder.

Abnormally increased size of the liver.

Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.

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

Reduced ability of the liver to perform its functions.

The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.

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.

Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.

Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.

Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).

Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles.

A severe delay in the achievement of motor or mental milestones in the domains of development of a child.

Abnormality of the corpus callosum.

Complete lack of development of speech and language abilities.

Displacement of the femur from its normal location in the hip joint.

The presence of an abnormal lateral curvature of the spine.

Lack of stability of a joint.

An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.

An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.

Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.

Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.

Generalized muscular hypotonia (abnormally low muscle tone).

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

Head circumference below 2 standard deviations below the mean for age and gender.

The presence of developmental dysplasia of the hip.

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

Inflammation or infection of the middle ear.

Abnormal increased size of the spleen.

Increased susceptibility to infections.

Abnormally increased serum levels of alkaline phosphatase activity.

Increased length and width of the tongue.

Changes in alignment of teeth in the dental arch

Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.

Increased volume and globular shape of the anteroinferior aspect of the nose.

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).

Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).

Increased spaces (diastemata) between most of the teeth in the same dental arch.

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.

Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.

A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.

Hypertrichosis is increased hair growth that is abnormal in quantity or location.

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.

Hair shafts are rough in texture.

The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.

Meeting of the medial eyebrows in the midline.

Underdevelopment of the nipple.

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.

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).

A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.