The presence of many cysts in the kidney.

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).

Limb shortening because of underdevelopment of one or more bones of the extremities.

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.

A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.

Weakness of the muscles of the legs.

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

Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident.

Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.

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

A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

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

A cystic lesion located in the liver.

The pinna has fewer folds and grooves than usual.

A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.

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.

External mechanical compression of the spinal cord.

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

A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.

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.

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.

Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.

Developmental hypoplasia of the mandible.

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.

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.

An abnormal accentuation of the inward curvature of the spine in the lumbar region.

Increased width of the ischium, which forms the lower and back part of the hip bone.

Underdevelopment of the proximal epiphysis of the femur.

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

An abnormal narrowing of the cervical spinal canal.

Abnormal widening of the metaphyseal regions of long bones.

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.

Trilobar skull configuration when viewed from the front or behind.

Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.

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

An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.

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

Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21. DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.

The presence of dysplastic regions in metaphyseal regions.

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

Inflammation of the eyelids.

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.

Systemic inflammatory response to infection.

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

An abnormally decreased level of immunoglobulin M (IgM) in blood.

Increased susceptibility to infections.

A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.

An abnormally decreased level of immunoglobulin in blood.

Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.

An abnormally decreased level of immunoglobulin G (IgG) in blood.

An abnormal increase in the level of triglycerides in the blood.

The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.

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.

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

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.

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.

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

Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.

A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.

A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.

An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.

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

A larger than usual distance between the left and right nipple.

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).

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.