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]

• 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]

  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 [pubmed.ncbi.nlm.nih.gov]

  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]

  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]

  Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails. [encore-expertisecentrum.nl]

• 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]

• Splenomegaly

  In addition to the classical features of COFS, the fetuses display thymus hyperplasia, splenomegaly and increased hematopoiesis. [canceropole-est.org]

  The fetuses had thymus hyperplasia, splenomegaly, and enhanced hematopoiesis, in addition to the usual characteristics of COFS. [news-medical.net]

• Aspiration

  We used weight-appropiate endotracheal tube than age-appropiate one but we prefferred cuffed - tube to avoid the risk of aspiration. In conclusion; all of these associated anomalies and dysfunctions requiring attention and experience. [scielo.br]

  Warburg-Microsyndrome)[3] Martsolf Syndrome[3] Cataract, Microcephaly, Failure 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 [eyewiki.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]

• 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]

• 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]

• 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]

• Prominent Nasal Root

  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]

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

  nasal root Overhanging upper lip Genetic Criteria for diagnosis:[5] DNA repair defect in Nucleotide Excision Repair pathway Physical examination Craniofacially, the disorder can manifest with:[3] Microcephaly Micrognathia Small mouth Cleft palate High [eyewiki.org]

  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]

  Typical clinical picture of COFS includes congenital microcephaly, cataract, microphthalmia, arthrogryposis, severe prenatal and postnatal growth failure, axial hypotonia, sensorineural deafness and facial dysmorphisms with prominent nasal root and/or [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]

• Thymus Hyperplasia

  In addition to the classical features of COFS, the fetuses display thymus hyperplasia, splenomegaly and increased hematopoiesis. [canceropole-est.org]

  The fetuses had thymus hyperplasia, splenomegaly, and enhanced hematopoiesis, in addition to the usual characteristics of COFS. [news-medical.net]

• Liver Biopsy

  Endotracheal intubation was done via sevoflurane combined with nitrous oxide in this patient who was scheduled for liver biopsy, and the procedure lasted for 13 min. We did not use muscle relexants in induction and maintenance of anesthesia, too. [scielo.br]

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]