Total 34 clinical symptoms reported for CK syndrome
| Abnormal cerebral cortex morphology |
Any structural abnormality of the cerebral cortex.
Synonyms:Abnormality of the cerebral cortex |
Very frequent |
| Almond-shaped palpebral fissure |
A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.
Synonyms:Almond shaped eyes; Almond-shaped opening between the eyelids |
Very frequent |
| Aphasia |
An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
Synonyms:Difficulty finding words; Losing words; Loss of words |
Very frequent |
| Asthenia |
A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.
Synonyms:Lack of energy and strength; Weakness |
Very frequent |
| Delayed speech and language development |
A degree of language development that is significantly below the norm for a child of a specified age.
Synonyms:Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay |
Very frequent |
| Dental crowding |
Changes in alignment of teeth in the dental arch
Synonyms:Crowded teeth; Dental crowding; Dental overcrowding; Overcrowding of teeth |
Very frequent |
| Epicanthus |
A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
Synonyms:Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds |
Very frequent |
| Global developmental delay |
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.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
| High palate |
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).
Synonyms:Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched |
Very frequent |
| Intellectual disability |
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.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
| Irritability |
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Synonyms:Irritability; Irritable; Irritable mood |
Very frequent |
| Kyphoscoliosis |
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
|
Very frequent |
| Long face |
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Synonyms:Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face |
Very frequent |
| Long fingers |
The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.
Synonyms:Long fingers |
Very frequent |
| Long toe |
Toes that appear disproportionately long compared to the foot.
Synonyms:Increased length of toes; Long toe; Long toes |
Very frequent |
| Lumbar hyperlordosis |
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Synonyms:Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis |
Very frequent |
| Malar flattening |
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Synonyms:Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening |
Very frequent |
| Microcephaly |
Head circumference below 2 standard deviations below the mean for age and sex.
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference |
Very frequent |
| Microretrognathia |
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Synonyms:Retromicrognathia; Small retruded chin |
Very frequent |
| Narrow face |
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Synonyms:Decreased breadth of face; Decreased horizontal dimension of face; Decreased transverse dimension of face; Decreased width of face; Horizontal deficiency of face; Horizontal hypoplasia of face; Horizontal insufficiency of face; Narrow face; Narrow facies; Thin facies; Transverse deficiency of face; Transverse hypoplasia of face; Transverse insufficiency of face |
Very frequent |
| Pachygyria |
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Synonyms:Cerebral pachygyria; Fewer and broader ridges in brain; Macrogyria |
Very frequent |
| Polymicrogyria |
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Synonyms:More grooves in brain |
Very frequent |
| Posteriorly rotated ears |
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Synonyms:Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears |
Very frequent |
| Prominent nasal bridge |
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Synonyms:Elevated nasal bridge; High nasal bridge; Prominent bridge of nose; Prominent nasal bridge; Prominent nasal root; Protruding bridge of nose; Protruding nasal bridge |
Very frequent |
| Seizure |
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.
Synonyms:Epileptic seizure; Seizures |
Very frequent |
| Sleep abnormality |
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Synonyms:Difficulty sleeping; Sleep disturbance; Sleep disturbances; Sleep dysfunction; Trouble sleeping |
Very frequent |
| Slender build |
Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.
Synonyms:Asthenic habitus; Slender build; Thin body habitus; Thin build |
Very frequent |
| Strabismus |
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Synonyms:Cross-eyed; Squint; Squint eyes |
Very frequent |
| Upslanted palpebral fissure |
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.
Synonyms:Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures |
Very frequent |