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

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]

COFS syndrome affects both females and males from all ethnic groups and symptoms are present at birth. This is a very rare syndrome and the exact number of cases in the UK is unknown. [medic8.com]

This case demonstrates the feasibility of such a diagnosis by ultrasound and identifies the malformations already present and detectable at mid-gestation. [moh-it.pure.elsevier.com]

Your application for Social Security Disability benefits must be presented properly in order for your claim to be processed under the Compassionate Allowances program. [disability-benefits-help.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]

  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]

• Developmental Delay

  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]

  delay complicated with congenital nystagmus]. 61 Gao ZJ...Chen XL 29141312 2017 9 Cockayne syndrome: a diffusion tensor imaging and volumetric study. 61 Koob M...Dietemann JL 27643390 2016 10 Diagnosis of Van den Ende-Gupta syndrome: Approach to the [malacards.org]

• Respiratory Distress

  Respiratory distress may also occur and some individuals have died in the first decade of life. Genetics Homozygous mutations in the ERCC6 gene (10q11) seem to be responsible for this autosomal recessive disorder. [disorders.eyes.arizona.edu]

  The baby needed oxygen supplementation for respiratory distress and was then admitted to the Neonatal Intensive Care Unit. The neonatal MRI confirmed the ventriculomegaly and detected a hypoplastic cerebellar vermis. [bmcmedgenomics.biomedcentral.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]

  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]

  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]

• 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]

• 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]

  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

  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]

• 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]

  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]

  Many children with Cerebro Oculo Facio Skeletal (COFS) syndrome also have low set ears, abnormally large ears, smallish eyes, abnormally small jaw or head, vision problems, mental retardation (ranging from severe to moderate), unusual eye movements, and [disabilitybenefitscenter.org]

• Reduced Fetal Movement

  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]

• 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]

• Akinesia

  These are the key signs of the Fetal Akinesia Deformation Sequence (FADS) also known as Pena-Shokeir syndrome. [bmcmedgenomics.biomedcentral.com]

• Peripheral Neuropathy

  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]

• 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]

  CT scans may show intracranial calcifications and brain histology shows severe neurodegeneration with neuronal loss and gliosis. Respiratory distress may also occur and some individuals have died in the first decade of life. [disorders.eyes.arizona.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 Read more about Cerebrooculofacioskeletal Syndrome [disorders.eyes.arizona.edu]

Treatment Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. Prognosis COFS is a fatal disease. Most children do not live beyond five years. [brainandlife.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

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]

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]

A multidisciplinary counselling was performed during which the parents were informed regarding the poor prognosis; the likelihood of a hereditary condition and the possibility of a COFS syndrome were hypothesized. The amniocentesis was performed. [bmcmedgenomics.biomedcentral.com]

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

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 13. Hall JG. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. [bmcmedgenomics.biomedcentral.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]

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]