Cockayne syndrome

Also known as: CS, dwarfism-retinal atrophy-deafness syndrome

Definition

Genetics Home Reference

Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.

People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can cause life-threatening liver failure.

Cockayne syndrome is sometimes divided into types I, II, and III based on the severity and age of onset of symptoms. However, the differences between the types are not always clear-cut, and some researchers believe the signs and symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it to be a separate but similar condition, others classify it as part of the Cockayne syndrome disease spectrum.

Go To Source: Genetics Home Reference

Orphanet

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally small cranium, small calvarium, Abnormally small head [more] Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Metatarsus adductus Metatarsus adductovarsus, Metatarsus varus, Forefoot varus, Intoe [more] The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Failure to thrive Weight faltering, Postnatal failure to thrive, Undergrowth, Poor weight gain [more] Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] 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).
Carious teeth Tooth decay, Rotting teeth, Dental decay, Caries, Dental cavities, Frequent caries, Dental caries, Early dental caries, Cariosity of teeth, Tooth cavities [more] Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Abnormality of the hand Hand anomalies, Hand deformities, Abnormal hands [more] An abnormality affecting one or both hands.
Cutaneous photosensitivity Photosensitive skin rashes, Sun sensitivity, Photosensitive skin, Photosensitivity, Sensitivity to sunlight, Skin photosensitivity [more] An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor development failure, Mental and motor retardation, Psychomotor delay, Delayed psychomotor development [more] 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.
Skin vesicle Blister A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.

Other Classifiers and IDs

  • OrphaNet: ORPHA:191
  • MedDRA: 10009835
  • MeSH: D003057
  • UMLS: C0009207