Case presentation: We report a case of recurrence of COFS3 syndrome within the same family, with similar diagnostic features. [moh-it.pure.elsevier.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]

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

Microencephaly is present in the three fetuses with delayed development of the gyri, but normal microscopic anatomy at the supratentorial level. Microscopic anomalies reminiscent of pontocerebellar hypoplasia are present at the infratentorial level. [canceropole-est.org]

Acronym COFS1 Synonyms COFS syndrome Pena-Shokeir syndrome type 2 Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Feeding Difficulties

  And is associated with feeding difficulties, sensorineural hearing loss, coxa valga, knee flexion contracture.11 Lyons K. unusual brain and/or neuromuscular findings with associated defects Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome. [scielo.br]

  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]

  Other features of this disorder include wide-set nipples, failure to thrive, slowed growth (developmental retardation), lack of muscle tone (hypotonia), feeding difficulties and one line in the palm of the hand formed by fusion of the usual two lines [rarediseases.org]

• 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]

  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]

  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]

  Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord.[1] Affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia ), impaired [rarediseases.info.nih.gov]

  Messaoud O 31124294 2019 7 [Anesthesia for intestinal obstruction in a six years old child with cerebro-oculo-facio-skeletal syndrome]. 61 Yuksek A...Kokulu S 28526469 2017 8 [Clinical manifestation and gene analyses of 15 patients with intellectual disability [malacards.org]

• Falling

  Cerebro Oculo Facio Skeletal (COFS) Syndrome is an inherited condition and is one of the conditions that falls under the Cockayne Syndrome spectrum of disorders. [disability-benefits-help.org]

• Failure to Thrive

  […] to Thrive, Kyphoscoliosis Syndrome (CAMFAK)[3] Management & Outcomes According to a case report by Lowry et al., failure to thrive due to feeding problems along with recurrent aspiration pneumonia led to death prior to 30 months of age in 8 out of 10 [eyewiki.org]

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

  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]

  Other features of this disorder include wide-set nipples, failure to thrive, slowed growth (developmental retardation), lack of muscle tone (hypotonia), feeding difficulties and one line in the palm of the hand formed by fusion of the usual two lines [rarediseases.org]

• Hypotension

  Clinical manifestations Clinical criteria are: Microcephaly, often lissencephaly, bar agenesis Muscular hypotension, hyperreflexia, areflexia progressive degradation of psychomotor skills lack of language development Microphthalmia, anophthalmia, cataract [de.zxc.wiki]

• Photosensitivity

  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]

  with mutations in the ERCC2 gene on chromosome 19 locus q13.32 COFS type 3 with strong photosensitivity, with mutations in the ERCC5 gene on chromosome 13 locus q33.1 COFS type 4 with mutations in the ERCC1 gene on chromosome 19 locus q13.32 All four [de.zxc.wiki]

  Symptoms associated with COFS syndrome include arthrogryposis, microcephaly, micropthalmia, short stature, developmental delay, photosensitivity, sensorineural hearing loss, visual impairment, and infantile death, among others. [pediatrics.aappublications.org]

  This syndrome is now recognized as a disorder belonging to the spectrum of inherited defects in Nucleotide Excision Repair (NER) resulting in profound photosensitivity. [pubmed.ncbi.nlm.nih.gov]

  Photosensitivity, nystagmus, optic nerve atrophy, and pigmentary retinopathy have been reported. The eyes may appear deeply-set. [disorders.eyes.arizona.edu]

• 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]

  set ears, upper lip overhanging the lower lip and congenital contractures. [semanticscholar.org]

  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]

  The symptoms 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 [sharecare.com]

• 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]

  The present patient had growth deficiency, microcephaly, deep-set small eyes, a… Figures from this paper References SHOWING 1-10 OF 15 REFERENCES Cerebro-oculo-facio-skeletal syndrome. M. [semanticscholar.org]

  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]

  The symptoms 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 [sharecare.com]

• Visual Impairment

  Symptoms associated with COFS syndrome include arthrogryposis, microcephaly, micropthalmia, short stature, developmental delay, photosensitivity, sensorineural hearing loss, visual impairment, and infantile death, among others. [pediatrics.aappublications.org]

• Visual Impairment

  Symptoms associated with COFS syndrome include arthrogryposis, microcephaly, micropthalmia, short stature, developmental delay, photosensitivity, sensorineural hearing loss, visual impairment, and infantile death, among others. [pediatrics.aappublications.org]

• Osteoporosis

  Also, due to the contractions and osteoporosis, adequate care should be considered while giving position during the surgery. [scielo.br]

  Microphthalmia, anophthalmia, cataract, blepharophimosis Facial dysmorphism with a prominent root of the nose, microgenius, large ears Camptodactyly, flexion contracture of the elbows and knee joints Kyphosis, acetabular dysplasia, coxa valga Rocker bottom feet osteoporosis [de.zxc.wiki]

  Babies with COFS syndrome may also have a higher risk of osteoporosis (brittle bones) and hip problems. COFS syndrome also tends to affect growth and development and babies tend to ‘fail to thrive’. [medic8.com]

  COFS syndrome is named so due to its effects on the brain, eyes, face, and skeletal system, as the disease, frequently causes brain atrophy, cataracts, loss of fat in the face, and osteoporosis. [disabled-world.com]

  History Microcephaly, hypotonia, arthrogryposis, eye abnormalities, overhanging upper lip, micrognathia, widely set nipples, kyphoscoliosis, and osteoporosis were noted in ten cases in three families reported by Pena and Shokeir in 1974. [news-medical.net]

• Flexion Contracture

  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]

  And is associated with feeding difficulties, sensorineural hearing loss, coxa valga, knee flexion contracture.11 Lyons K. unusual brain and/or neuromuscular findings with associated defects Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome. [scielo.br]

  contracture of the elbows and knee joints Kyphosis, acetabular dysplasia, coxa valga Rocker bottom feet osteoporosis Death in infancy from infection Photosensitivity, peripheral neuropathy, inner ear hearing loss and retinopathia pigmentosa can also [de.zxc.wiki]

  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]

• Coxa Valga

  And is associated with feeding difficulties, sensorineural hearing loss, coxa valga, knee flexion contracture.11 Lyons K. unusual brain and/or neuromuscular findings with associated defects Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome. [scielo.br]

  valga Rocker bottom feet osteoporosis Death in infancy from infection Photosensitivity, peripheral neuropathy, inner ear hearing loss and retinopathia pigmentosa can also occur. diagnosis The diagnosis can be suspected intrauterine by fine ultrasound [de.zxc.wiki]

  A deformity of the hip (coxa valga) and porous bones (osteoporosis) may also occur. [rarediseases.org]

• Small Foot

  X-ra. studies may reveal displacement of the small foot bones between the ankle and toes (second metatarsals) and neuroimaging studies may show reduced white matter with gray matter mottling. [rarediseases.org]

• Large Feet

  Ozdirim et al13 described large feet and hands in 14 of 25 patients (56%) but did not mention edema. In the present study, edema was cyanotic with increased visibility of veins because of skin atrophy. [jamanetwork.com]

• Psychomotor Retardation

  Definition A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. [uniprot.org]

  The COFS syndrome, acronym for C erebro - O culo - F acio - S kelett, is a rare, lethal running congenital disease with the main features of a severe psychomotor retardation, facial dysmorphia, skeletal abnormalities with flexion. [de.zxc.wiki]

  COFS can cause intrauterine fetal death or, alternatively, severe psychomotor retardation is constant and death usually occurs in the first months/years of life [1, 2]. [bmcmedgenomics.biomedcentral.com]

• Denial

  A lack of sufficient medical evidence may result in approval delays or a denial of your Social Security Disability claim. [disability-benefits-help.org]

• Stroke

  This answer is based on source information from the National Institute of Neurological Disorders and Stroke. [sharecare.com]

  Information from the National Library of Medicine’s MedlinePlusDegenerative Nerve Diseases Information sourced through CNF’s partnership with The National Institute of Neurological Disorders and Stroke (NINDS), US National Institutes of Health. [childneurologyfoundation.org]

  [Online] NIH – National Institute of Neurological Disorders and Stroke. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebro-Oculo-Facio-Skeletal-Syndrome-COFS-Information-Page Cerebro-oculo-facio-skeletal syndrome. [news-medical.net]

  Phone: (888) 663-4637 Website: http://www.marchofdimes.org MyFace 333 East 30th Street, Lobby Unit New York, NY 10016 Phone: (212) 263-6656 Email: [email protected] Website: http://www.myface.org NIH/National Institute of Neurological Disorders and Stroke [rarediseases.org]

• Peripheral Neuropathy

  Clinical findings are psychomotor development delay, neurological dysfunction, peripheral neuropathy, microcephaly, micrognathism, hypotonia, hyporeflexia, convulsions, and congenital cataract. [scielo.br]

  neuropathy, inner ear hearing loss and retinopathia pigmentosa can also occur. diagnosis The diagnosis can be suspected intrauterine by fine ultrasound and confirmed human genetically. [de.zxc.wiki]

  Some patients may also experience cutaneous photosensitivity, hypogonadism, seizure, peripheral neuropathy, and optic atrophy. [news-medical.net]

• Areflexia

  Clinical manifestations Clinical criteria are: Microcephaly, often lissencephaly, bar agenesis Muscular hypotension, hyperreflexia, areflexia progressive degradation of psychomotor skills lack of language development Microphthalmia, anophthalmia, cataract [de.zxc.wiki]

  Repair pathway Physical examination Craniofacially, the disorder can manifest with:[3] Microcephaly Micrognathia Small mouth Cleft palate High arched palate Short neck Neurologically, COFS can manifest with the following findings:[3] Hyporeflexia or areflexia [eyewiki.org]

• Hyperreflexia

  Both hypotonia and hyperreflexia have been described. Kyphosis and scoliosis are common. CT scans may show intracranial calcifications and brain histology shows severe neurodegeneration with neuronal loss and gliosis. [disorders.eyes.arizona.edu]

  Clinical manifestations Clinical criteria are: Microcephaly, often lissencephaly, bar agenesis Muscular hypotension, hyperreflexia, areflexia progressive degradation of psychomotor skills lack of language development Microphthalmia, anophthalmia, cataract [de.zxc.wiki]

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 Read more about Cerebrooculofacioskeletal Syndrome [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]

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]

Prognosis COFS is a fatal disease. Most children do not live beyond five years. Research The NINDS supports research on genetic disorders such as COFS. The goals of this research include finding ways to prevent, treat, and cure these disorders. [brainandlife.org]

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]

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]

Smith–Lemli–Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C Semin Med Genet. 2012;160C(4):250–62. Article Google Scholar Hall JG. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. [bmcmedgenomics.biomedcentral.com]

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]

The goals of this research include finding ways to prevent, treat, and cure these disorders. Information from the National Library of Medicine’s MedlinePlus Degenerative Nerve Diseases [brainandlife.org]

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

The goals of this research include finding ways to prevent, treat, and cure these disorders. Template:WikiDoc Sources [wikidoc.org]