Ears were large, root of nose was prominent, upper lip was overhanging the lower one and micrognathia was present. Hands revealed bilateral fixed flexion deformity at proximal interphalangeal joint of little fingers. [indianpediatrics.net]

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

Alwadhi and Pankaj Garg Summary points: A seven-day-old with microcephaly with facial dysmorphism is presented. [docguide.org]

Congenital muscular dystrophy-like changes were present in this patient. It is debated whether the clinical spectrum of the COFS phenotype should be expanded to include congenital muscular dystrophy: [ncbi.nlm.nih.gov]

From 4-5 years, she started to present neurological regression, a pyramidal-ataxic syndrome and seizures. The child also showed marked redness upon minimal exposure to the sun. [scielo.br]

• Disability

  Because of this, you may wish to hire a disability advocate or attorney when filing your Social Security Disability claim. [disability-benefits-help.org]

  Your Cerebro Oculo Facio Skeletal (COFS) Syndrome Social Security Disability Case If your child has COFS, there’s no doubt that you qualify for Social Security Disability benefits. [disabilitybenefitscenter.org]

  Death usually occurs by five years of age. advertisements Disabled World is an independent disability community established in 2004 to provide disability news and information to people with disabilities, seniors, their family and/or carers. [disabled-world.com]

  Other findings may include: • Microcephaly (abnormal smallness of the head); • Micrognathia (abnormal smallness of the jaws); • Involuntary eye movements; and • Intellectual disability. ICD-9: 759.89 PROGRESSION COFS is a fatal disease. [secure.ssa.gov]

  Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus and Vincent Laugel Cockayne Syndrome CS is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability [genosmile.eu]

• Developmental Delay

  Abstract Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive inherited disorder characterized by congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth [ncbi.nlm.nih.gov]

  She showed a failure to thrive with severe developmental delays. Her anthropometric measurements at 8-months of age were all below the 3rd centile. On clinical examination, she was found to be microcephalic with deep set eyes. [cags.org.ae]

  Cockayne syndromes are inherited disorders characterized by severe growth delay, a small head size, developmental delays, and intellectual disabilities. [myriad.com]

  Hormones Delayed puberty. Fertility issues. Undescended testicles in boys. Neurologic capabilities and development Abnormally tight muscles (spasticity). Decline in intellectual abilities. Developmental delays. Difficulty speaking (aphasia). [my.clevelandclinic.org]

  Clinically, the following criteria are found: congenital microcephaly, congenital cataract and/or microphthalmia, arthrogryposis, severe psychomotor developmental delay, height-weight growth delay (principally postnatal) and facial dysmorphism (prominent [orpha.net]

• Short Stature

  Short stature (dwarfism). Progressive dementia. What are the different types of Cockayne syndrome? There are three types: Type 1 (classic): Symptoms appear after a child is a year old and worsen with time. [my.clevelandclinic.org]

  Clinically submucosal cleft palate have, bifid uvula, short stature, hearing disorders, narrow shoulders and short neck. [milyyjess.blogspot.com]

  stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. [ncbi.nlm.nih.gov]

  Severe mental retardation, cataracts, short stature and primary hypogonadism in two brothers. Am J Med Genet 1978; 1:291–299. CrossRef PubMed Google Scholar 13. Meira LB, Graham JM, Greenberg CR et al. [link.springer.com]

  Description 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. [medlineplus.gov]

• Asymptomatic

  Osteoporosis Osteoporosis, or weak bones is an asymptomatic condition that increases the risk of a broken bone(fracture). Fractures cause pain, impair your mobility and can increase the risk of death. [coffsms.com.au]

  This is mostly asymptomatic and only manifested by elevated plasma levels of transaminases. Sometimes the physical examination shows hepatomegaly. Kidney damage may occur in some children and manifest as proteinuria. [ncbi.nlm.nih.gov]

  Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype. Am J Med Genet. 2000;92:1–6. 12. Hesselmans LF, Jennekens FG, Van den Oord CJ, Veldman H, Vincent A. [dovepress.com]

• Multiple Congenital Anomalies

  Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal-recessive disorder that includes microcephaly, severe mental retardation, and multiple congenital anomalies. Otologic findings are usually limited to descriptions of the auricles. [ncbi.nlm.nih.gov]

  Pena-Shokeir phenotype: a lethal pattern of multiple congenital anomalies. Ann Saudi Med. 1991;11(3):264–266. 70. Adam S, Lombaard H, Spencer C. Discordant monoamniotic twins with Pena-Shokeir phenotype. Clin Case Rep. 2016;4(10):919–921. 71. [dovepress.com]

• Failure to Thrive

  Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by a wide range of dysmorphic features, including profound microcephaly, mental retardation, hyperkinesis, failure to thrive, and orthopedic abnormalities (1 [ncbi.nlm.nih.gov]

  She showed a failure to thrive with severe developmental delays. Her anthropometric measurements at 8-months of age were all below the 3rd centile. On clinical examination, she was found to be microcephalic with deep set eyes. [cags.org.ae]

  […] to thrive, obesity) Weight management Malnutrition Food intolerance & allergy Coeliac disease Nutrient deficiency - eg. iron deficiency anaemia Irritable bowel syndrome (IBS) Gastrointestinal concerns - Diverticular disease, GORD, constipation. [hoyshealth.com.au]

  Clinical features include failure to thrive, neurodevelopmental delay, cutaneous photosensitivity, pigmentary retinopathy, sensorineural hearing loss, dental caries, and cachectic dwarfism. [radiopaedia.org]

• Small Head

  It is common for babies with this condition to have very small heads, small eyes and an abnormally large nose. Cataracts and blepharophimosis (a very narrow trench between the eyelids) are common features. [medic8.com]

  Characteristic clinical features are numerous and include facial (low set ears, a sloping forehead, abnormally small head and jaws, and a prominent nasal bridge), ocular (deep set eyes, small eyes, cataract, nystagmus and other vision impairments, involuntary [cags.org.ae]

  Children with COFS syndrome have distinctive facial features, including low-set ears, small eyes, small head size ( microcephaly ), and a small jaw ( micrognathia ). [rarediseases.info.nih.gov]

• Small Eyes

  Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive [ninds.nih.gov]

  Characteristic clinical features are numerous and include facial (low set ears, a sloping forehead, abnormally small head and jaws, and a prominent nasal bridge), ocular (deep set eyes, small eyes, cataract, nystagmus and other vision impairments, involuntary [cags.org.ae]

  Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and mental retardation [medications.com]

  Children with COFS syndrome have distinctive facial features, including low-set ears, small eyes, small head size ( microcephaly ), and a small jaw ( micrognathia ). [rarediseases.info.nih.gov]

• Visual Impairment

  A combination of visual defects resulting in the same degree of visual impairment as that occurring in the above points. [ourguidelines.ndis.gov.au]

• Low Set Ears

  Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive [ninds.nih.gov]

  She was having microcephaly, micrognathia, micro-ophthalmia, large low set ears, upper lip overhanging the lower lip and congenital contractures. Growth and development were severely retarded. [ncbi.nlm.nih.gov]

  On clinical examination, she was found to be microcephalic with deep set eyes. Facial dysmorphic features also included microphthalmia, low-set large ears, a beaked nose, a long philtrum, micrognathia and an overhanging upper lip. [cags.org.ae]

• Photosensitivity

  We report a case of a five-year-old girl who presented cockayne syndrome with onset in early infancy without photosensitivity. [latunisiemedicale.com]

  Later, photosensitivity was reported11 in 24 (96%) patients with CS confirmed by defective post-UV RNA synthesis, and photosensitivity was then cited as the most frequent symptom in CS. [jamanetwork.com]

  Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, cataracts, or both [ncbi.nlm.nih.gov]

  Cutaneous photosensitivity, peripheral neuropathy, sensorineural hearing loss and pigmentary retinopathy can be observed. Etiology The identified mutations mainly concern the ERCC6/CSB gene. [orpha.net]

• 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]

  Camptodactyly,Feet Vertical talus,Rocker-bottom feet,Longitudinal groove on soles,Second metatarsal posteriorly placed CHEST Breasts Widely spaced nipples GROWTH Weight Normal birth weight,Failure to thrive INHERITANCE Autosomal recessive SKIN, NAILS, HAIR Hair Hirsutism [datapunk.net]

• Prominent Nasal Root

  nasal root and/or overhanging upper lip. [ncbi.nlm.nih.gov]

  Systemic Features: Microcephaly, flexion contractures, prominent nasal root and an overhanging upper lip are common features. Severe developmental and growth delays are evident early followed by progressive behavioral and intellectual deterioration. [disorders.eyes.arizona.edu]

  The disease involves head and neck (microcephaly, micrognathia/retrognathia, upper lip overlaps the lower lip, sloping forehead, long philtrum and prominent nasal root, large ear pinnae), CNS (mental retardation, hemiparesis, hypoplasia of the optic tract [accessanesthesiology.mhmedical.com]

  She had small, deep-set eyes, a prominent nasal root and tip, an overhanging upper lip, and mild micrognathia. Appendicular tone was increased with decreased axial tone, and she developed progressive contractures. [atcc.org]

• Global Developmental Delay

  developmental delay Intellectual disability Normal pressure hydrocephalus Patchy demyelination of subcortical white matter Peripheral dysmyelination Polyneuropathy Seizure Tremor Ventriculomegaly Ear malformation Abnormal pinna morphology Sensorineural [ncbi.nlm.nih.gov]

  Developmental Delay Aicardi syndrome Aicardi-Goutières syndrome Angelman syndrome CHARGE syndrome Cockayne syndrome/ Types I and Type II / Cerebro-oculo-faciao-skeletal (COFS) syndrome/ Pena Shokeir syndrome Type II / Weber-Cockayne syndrome/ Neill-Dingwall [ourguidelines.ndis.gov.au]

Sections Cockayne Syndrome Overview Background Pathophysiology Etiology Epidemiology Prognosis Patient Education Show All Presentation History Physical Examination Complications Show All DDx Workup Laboratory Studies Imaging Studies Other Tests Show All [emedicine.medscape.com]

[…] 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]

Before taking any medication, always check with a qualified professional for healthcare information, treatment advice. [rarediseases.oscar.ncsu.edu]

Treatment Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. × Treatment Treatment is supportive and symptomatic. [ninds.nih.gov]

Treatment Treatment Options: No treatment is available for this disorder. References [disorders.eyes.arizona.edu]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Treatment - Cerebro-oculo-facio-skeletal syndrome Treatment for COFS syndrome involves supportive care and is based on an individual's symptoms. People with this condition often require a feeding tube to obtain adequate nutrition. [checkorphan.org]

Prognosis COFS is a fatal disease. Most children do not live beyond five years. x Prognosis COFS is a fatal disease. Most children do not live beyond five years. Prognosis COFS is a fatal disease. Most children do not live beyond five years. [ninds.nih.gov]

Outlook / Prognosis What is the prognosis for children with Cockayne syndrome? Cockayne syndrome affects life expectancy. Your child’s prognosis depends on the type: Type 1: Life expectancy is 10 to 20 years. [my.clevelandclinic.org]

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

Elsevier Health Sciences, ١٨‏/٠٨‏/٢٠١٣ - 979 من الصفحات Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders [books.google.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Numerous etiologies are responsible for patho- logic intracranial calcifications [7, 10]. Tumors, some cerebral inflammatory diseases, vascular abnormali- ties and old intracranial hemorrhages are the most usual etiologic factors [7, 10]. [myslide.es]

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]

Neto RM, Castilla EE, Paz JE (1981) Hypospadias: an epidemiological study in Latin America. Am J Med Genet 10:5 CrossRef Google Scholar 26. Opitz JM (1982) The developmental field concept in clinical genetics. [link.springer.com]

In Cockayne syndrome II, the defective CS group B protein, an SNF2-family DNA-dependent ATPase, is implicated in transcription elongation, transcription coupled repair, and DNA base excision repair. [15] Epidemiology Frequency Cockayne syndrome is rare [emedicine.medscape.com]

Pathophysiology Cockayne syndrome is an autosomal recessive disorder. A DNA repair defect is a prominent feature of Cockayne syndrome. [emedicine.medscape.com]

Pearls and Other Issues Cockayne syndrome is a rare but serious genetic disorder whose pathophysiological mechanisms remain unclear. [ncbi.nlm.nih.gov]

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]

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

[…] sunburn by use of sunglasses and sunscreen creams, and proper protective clothing Treatment of eye and hearing problems as needed Preventive care Physical therapy to prevent loss of ambulation Ensuring a safe environment to prevent falls and further injuries [news-medical.net]

Prevention Can you prevent Cockayne syndrome? As a genetic disorder, there isn’t anything you can do to prevent Cockayne syndrome. Once a child is born with it, they have it for life. [my.clevelandclinic.org]

Symptoms - Cerebro-oculo-facio-skeletal syndrome Causes - Cerebro-oculo-facio-skeletal syndrome Prevention - Cerebro-oculo-facio-skeletal syndrome Not supplied. Diagnosis - Cerebro-oculo-facio-skeletal syndrome Not supplied. [checkorphan.org]

The goals of this research include finding ways to prevent, treat, and cure these disorders. [ninds.nih.gov]