Both syndromes present a strong overlap with COFS syndrome [18]. [bmcmedgenomics.biomedcentral.com]

However, hypomyelination and the facial features of typical CS patients are not present. Diagmosis and Treatment COFS is usually diagnosed at birth. [disabled-world.com]

Patients in the present study fulfilled these clinical diagnostic criteria. [spandidos-publications.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

• Feeding Difficulties

  Affected children also develop vision and hearing problems that worsen over time, as well as neurological problems such as increased muscle tone, difficulty walking, tremors, seizures, feeding difficulties, and behavioral issues. [myriadwomenshealth.com]

  The axial hypotonia contrasts with the peripheral hypertonia and is associated with feeding difficulties. Cutaneous photosensitivity, peripheral neuropathy, sensorineural hearing loss and pigmentary retinopathy can be observed. [orpha.net]

  They also exhibit a predominantly postnatal growth failure, a severe psychomotor retardation, with axial hypotonia and peripheral hypertonia and neonatal feeding difficulties. [jmg.bmj.com]

  Early death, associated with feeding difficulties and pneumonia, often occurs. Active respiratory tract infections should be sought and treated. [accessanesthesiology.mhmedical.com]

  Feeding difficulties necessitate tube feeding. Most newborns die by the age of 4-5 years old owing to chronic respiratory infections, which cause severe failure to thrive and developmental delays. [news-medical.net]

• Collapse

  Collapse of the endolymphatic duct of pars inferior Vision Corneal opacification. Cataracts [36–86%]. Usually bilateral, most develop by 4 years of age. Pigmentary retinopathy (“salt and pepper”)[43–89%]. [en.wikipedia.org]

• Retinal Pigmentation

  Patchy loss of melanin pigment granules. Lipofuscin deposition, large pigment laden cells in a perivascular distribution. Retinal pigment epithelial atrophy and hyperplasia. Loss of cells in ganglion and outer nuclear cell layers. [en.wikipedia.org]

• Dry Hair

  Hair color; hair dystrophies, such as thin hair, dry hair, and brittle hair; and nail disorders were assessed. Any other cutaneous finding was also noted, and the face (profile and front view) and skin lesions were photographed. [jamanetwork.com]

  Other features of Cockayne syndrome may include decreased sweating (hypohidrosis), lack of proper tearing in the eyes and/or thin, dry hair. [rarediseases.org]

  Dental caries, enamel hypoplasia Skin, hair, nails Photosensitivity. Wrinkled and aged appearing skin. Thin dry hair, prematurely gray hair. Poor venous access. Central nervous system Microcephaly usually beginning at age 2. [en.wikipedia.org]

• Dry Skin

  Other possible symptoms include (but are not limited to) cataracts, frequent cavities, dry skin and hair, bone problems, and changes in the brain that can be seen on brain imaging. [myriadwomenshealth.com]

• Thin Skin

  When patients with CS grow older, the fat surrounding their eyes is progressively reduced, leading to sunken eyes, and the skin becomes thin. Thin skin predominates on temporal areas, with abnormal visualization of veins. [jamanetwork.com]

• Hirsutism

  Other inconstant features can include widely spaced nipples, insulin resistance, hirsutism, and heart defects. Early death, associated with feeding difficulties and pneumonia, often occurs. [accessanesthesiology.mhmedical.com]

• Flexion Contracture

  contractures, camptodactyly, vertical talus, rocker-bottom feet, longitudinal groove on the soles, posterior placement of the second metatarsal). [accessanesthesiology.mhmedical.com]

  She displayed knee flexion contractures and her legs were in scissoring position. She was also found to suffer from hypertonia and hyperreflexia in all four limbs. Ophthalmological findings included strabismus and the inability to fixate her eyes. [cags.org.ae]

  Neurologically, COFS can manifest with the following findings:[3] Hyporeflexia or areflexia throughout throughout the body Sensorineural hearing loss Impaired cognitive development Other musculoskeletal manifestations of COFS include:[3] Arthrogryposis Flexion [eyewiki.org]

  In most patients, fixed bending of the elbows and knees (flexion contractures), a hunched back (kyphosis), and bending of one or more fingers (camptodactyly) occurs. [rarediseases.org]

• Muscle Hypotonia

  In the following weeks, severe failure to thrive, nystagmus, axial muscular hypotonia with increased muscle tone, and flexion pattern in the limbs and light sensitivity of the skin were noted. [onlinelibrary.wiley.com]

• Widely Spaced Nipples

  Other inconstant features can include widely spaced nipples, insulin resistance, hirsutism, and heart defects. Early death, associated with feeding difficulties and pneumonia, often occurs. [accessanesthesiology.mhmedical.com]

• Suggestibility

  Neurological investigations suggested the presence of cerebral atrophy, increased extra-ventricular CSF spaces, demyelination of white matter and enhancement of basal ganglia. [cags.org.ae]

  We suggest including a detailed assessment of the fetal eyes and lenses when the presence of limbs abnormalities raises the suspicion of AMC. [bmcmedgenomics.biomedcentral.com]

  The neuropathological changes, previously not well documented, suggest that COFS syndrome is associated with a degenerative process that begins in utero and affects many brain cell types. Similarities to Cockayne syndrome are discussed. [go.gale.com]

  Still, the association of these signs, their precise characteristics, and their gradual appearance during the natural course of the disease can be highly suggestive of the CS diagnosis. [ajnr.org]

• Tremor

  Affected children also develop vision and hearing problems that worsen over time, as well as neurological problems such as increased muscle tone, difficulty walking, tremors, seizures, feeding difficulties, and behavioral issues. [myriadwomenshealth.com]

  […] life span Microcephaly Neurodevelopment delay Short stature (height <5th percentile) Contractures Retinopathy and/or cataracts Hearing loss Poor circulation (cold hands and feet Low body temperature Mircopenis Feeding problems Sleeping with eyes open Tremors [cockaynesyndrome.org]

  Neurological symptoms may include rhythmic, quivering movements (tremors), an unsteady gait (ataxia), and/or the inability to coordinate movement. [rarediseases.org]

  […] rare subset of patients, classified as having severe Cockayne syndrome type II, have low birth weight with almost no postnatal growth Neurologic deterioration - Deterioration of the central and peripheral nervous system leads to spasticity, ataxia, tremor [emedicine.medscape.com]

  In our cohort and in other reports, cerebellar atrophy included white and gray matter9,10 and clearly progressed with time in all clinical subtypes, together with the clinical dysmetria and action tremor observed in patients with CS. [ajnr.org]

[…] unlike xeroderma pigmentosum, CS is not associated with an increased risk of cancer.[5] Laboratory Studies[edit] In Cockayne syndrome patients, UV-irradiated cells show decreased DNA and RNA synthesis. https://emedicine.medscape.com/article/1115866-workup [en.wikipedia.org]

• Gliosis

  Older children displayed cortical neuron loss, patchy or diffuse absence of myelin and gliosis in the white matter, and pericapillary and parenchymal mineralization in the globus pallidus and to a lesser extent the putamen and cerebral cortex. [academic.oup.com]

  […] forehead, long philtrum and prominent nasal root, large ear pinnae), CNS (mental retardation, hemiparesis, hypoplasia of the optic tract, focal microgyria, corpus callosum agenesis, seizures, infantile spasm, hypotonia, third ventricle subependymal focal gliosis [accessanesthesiology.mhmedical.com]

  Optic nerve atrophy, with partial demyelination, axonal loss, and gliosis Musculoskeletal system Cachectic dwarfism. Contractures. Kyphosis, scoliosis. Stooped posture. Muscle wasting. [en.wikipedia.org]

• Amyloid Plaque

  Amyloid plaques, neurofibrillary tangles, Hirano bodies not commonly seen, although ubiquitin reactivity of axons present Hearing and vestibular systems Sensorineural, high tone hearing loss [60–90%]. [en.wikipedia.org]

• Neurofibrillary Tangle

  Amyloid plaques, neurofibrillary tangles, Hirano bodies not commonly seen, although ubiquitin reactivity of axons present Hearing and vestibular systems Sensorineural, high tone hearing loss [60–90%]. [en.wikipedia.org]

Treatment is based on an individual's symptoms and includes supportive care. [news-medical.net]

Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. [disabled-world.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment is focused on managing the symptoms of the condition. [myriadwomenshealth.com]

Are there any treatments available? Treatment is designed to ease symptoms and support children. Genetic counselling should be made available for parents. Research into COFS syndrome is ongoing. [medic8.com]

What is the prognosis for an individual with an ERCC6-related Disorder? The prognosis for ERCC6-related disorders varies depending on the type of Cockayne syndrome. [myriadwomenshealth.com]

The prognosis for those with Cockayne syndrome is poor, as death typically occurs by the individual's twenties. Treatment usually involves physical therapy and minor surgeries to the affected organs, like cataract removal. [checkorphan.org]

Prognosis COFS syndrome is a severe disease leading to death in the first years of live, particularly by respiratory infections. The documents contained in this web site are presented for information purposes only. [orpha.net]

Cockayne syndrome II (CS-B) manifests at birth or in infancy, and it has a worse prognosis. [en.wikipedia.org]

Etiology The identified mutations mainly concern the ERCC6/CSB gene. One case has been linked to the ERCC1 gene and particular clinical forms with major photosensitivity have been linked with the ERCC2/XPD and ERCC5/XPG genes. [orpha.net]

Disease Epidemiology Only 14 cases of COFS were documented between 1974 and 2010.[3] The only documented case of COFS since 2010 was reported in 2021 by Sirchia et al.[1] Etiology COFS is a congenital autosomal recessive disorder stems from a mutation [eyewiki.org]

The etiology is highly heterogeneous and prenatal diagnosis is reached in around 25% during an obstetric routine care [9, 10]. [bmcmedgenomics.biomedcentral.com]

Introduction History Cause and symptoms Epidemiology Case reports Diagnosis and treatment References Further reading Cerebro-oculo-facio-skeletal syndrome or COFS is a rare neurodegenerative disease with an autosomal recessive pattern of inheritance. [news-medical.net]

Summary Epidemiology The exact incidence is unknown. [orpha.net]

Disease Epidemiology Only 14 cases of COFS were documented between 1974 and 2010.[3] The only documented case of COFS since 2010 was reported in 2021 by Sirchia et al.[1] Etiology COFS is a congenital autosomal recessive disorder stems from a mutation [eyewiki.org]

Epidemiology Frequency United States The incidence of Cockayne syndrome is estimated to be 2.7 cases per million births in the United States and Western Europe. [2] International Similarly, a study by Kubota et al found the incidence of Cockayne syndrome [emedicine.medscape.com]

[citation needed] Epidemiology[edit] Cockayne syndrome is rare worldwide. No racial predilection is reported for Cockayne syndrome. No sexual predilection is described for Cockayne syndrome; the male-to-female ratio is equal. [en.wikipedia.org]

Microarray analysis and targeted molecular testing for mutations in the following genes can help determine a couple’s risk for conceiving a child with COFS: 46 nucleotide excision repair genes, most notably:[1] ERCC1 ERCC2 ERCC5 ERCC6 KIAA1109 PHGDH FKTN Pathophysiology [eyewiki.org]

Cockayne syndrome was first reported in 1936, by Edward Alfred Cockayne. [1] Pathophysiology Cockayne syndrome type I is characterized by normal growth parameters at birth. [emedicine.medscape.com]

This defective repair of ultraviolet-induced lesions may well explain the cutaneous photosensitivity of patients with CS, but the pathophysiologic mechanisms behind the remaining clinical features are poorly understood. [ajnr.org]

Future XPD/CS/COFS cases should be analyzed for transcriptome changes to get more insight into the pathophysiology of CS/COFS. In conclusion, we report on the first patient with the homozygous pathogenic variant Gly47Arg in the ERCC2 gene. [onlinelibrary.wiley.com]

Clubbing: an update on diagnosis, differential diagnosis, pathophysiology, and clinical relevance. J Am Acad Dermatol. 2005;52(6):1020-1028.PubMedGoogle ScholarCrossref [jamanetwork.com]

Another important aspect is prevention of recurrence of CS in other sibling. Identification of gene defects involved makes it possible to offer genetic counseling and antenatal diagnostic testing to the parents who already have one affected child. [checkorphan.org]

For example, it has been shown, that ERCC2‐mutations may prevent TFIIH‐dependent transactivation by nuclear receptors (Keriel, Stary, Sarasin, Rochette‐Egly, & Egly, 2002). [onlinelibrary.wiley.com]

Genetic counseling for the parents is recommended, as the disorder has a 25% chance of being passed to any future children, and prenatal testing is also a possibility.[3] Another important aspect is the prevention of recurrence of CS in other siblings [en.wikipedia.org]

However, reduced fetal movements and the fixed fetal position may prevent the study of these anatomical regions by ultrasound and misguide in the diagnostic process, while fetal MRI could increase the diagnostic accuracy of these defects [16, 17]. [bmcmedgenomics.biomedcentral.com]