Total 115 clinical symptoms reported for Cockayne syndrome
| Abnormality of retinal pigmentation |
Synonyms:Abnormal retinal pigmentation; Abnormality of retinal pigment epithelium; Abnormality of RPE; Retinal pigmentary anomaly |
Very frequent |
| Behavioral abnormality |
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Synonyms:Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral/psychiatric abnormalities; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances |
Very frequent |
| Cachexia |
Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
Synonyms:Wasting syndrome |
Very frequent |
| Cerebellar atrophy |
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Synonyms:Atrophic cerebellum; Degeneration of cerebellum |
Very frequent |
| Cerebral dysmyelination |
Defective structure and function of myelin sheaths of the white matter of the brain.
Synonyms:Areas of dysmyelination on MRI; Dysmyelination of the brain |
Very frequent |
| Growth delay |
A deficiency or slowing down of growth pre- and postnatally.
Synonyms:Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth |
Very frequent |
| Mental deterioration |
Loss of previously present mental abilities, generally in adults.
Synonyms:Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline |
Very frequent |
| Pigmentary retinopathy |
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
Synonyms:Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration |
Very frequent |
| Postnatal growth retardation |
Slow or limited growth after birth.
Synonyms:Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure |
Very frequent |
| Progressive microcephaly |
Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
Synonyms:Microcephaly, postnatal, progressive; Microcephaly, progressive; Progressively abnormally small cranium; Progressively abnormally small skull |
Very frequent |
| Progressive sensorineural hearing impairment |
A progressive form of sensorineural hearing impairment.
Synonyms:Bilateral progressive sensorineural hearing loss; Hearing loss, progressive sensorineural; Hearing loss, sensorineural, bilateral, progressive; Hearing loss, sensorineural, progressive; Progressive bilateral sensorineural hearing loss; Sensorineural hearing loss, progressive |
Very frequent |
| Severe short stature |
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Synonyms:Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe |
Very frequent |