Total 47 clinical symptoms reported for Costello syndrome
| Abnormal fingernail morphology |
An abnormality of the fingernails.
Synonyms:Abnormal fingernails; Abnormality of the fingernails |
Very frequent |
| Abnormality of the skin |
An abnormality of the skin.
Synonyms:Abnormality of the skin; Dermatopathy; Dermopathy |
Very frequent |
| Acanthosis nigricans |
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Synonyms:Darkened and thickened skin; Keratosis nigricans |
Very frequent |
| Concave nail |
The natural longitudinal (posterodistal) convex arch is not present or is inverted.
Synonyms:Koilonychia; Spoon-shaped nails |
Very frequent |
| Deep-set nails |
Deeply placed nails.
Synonyms:Deep-set nails |
Very frequent |
| Delayed skeletal maturation |
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms:Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation |
Very frequent |
| Depressed nasal bridge |
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge |
Very frequent |
| Failure to thrive in infancy |
Synonyms:Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy |
Very frequent |
| Feeding difficulties in infancy |
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
|
Very frequent |
| Hyperkeratosis |
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
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Very frequent |
| Lack of skin elasticity |
This section is currently in development.
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Very frequent |
| Macrocephaly |
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Synonyms:Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocrania; Megacephaly |
Very frequent |
| Narrow palate |
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Synonyms:Decreased palatal width; Decreased transverse dimension of palate; Narrow palate; Narrow roof of mouth |
Very frequent |
| Pulmonic stenosis |
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Synonyms:Narrowing of pulmonic valve; Pulmonary stenosis; Pulmonary valve stenosis; Pulmonic valve stenosis |
Very frequent |
| Redundant skin |
Loose and sagging skin often associated with loss of skin elasticity.
Synonyms:Loose redundant skin; Redundant skin folds; Sagging, redundant skin |
Very frequent |
| Short neck |
Diminished length of the neck.
Synonyms:Cervical shortening; Decreased cervical height; Decreased cervical length; Decreased length of neck; Short neck |
Very frequent |
| Short stature |
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).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
| Ventricular septal defect |
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Synonyms:Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD |
Very frequent |
| Woolly hair |
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.
Synonyms:Kinked hair; Wooly hair |
Very frequent |