Presentation
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]
Alwadhi and Pankaj Garg Summary points: A seven-day-old with microcephaly with facial dysmorphism is presented. [docguide.org]
Musculoskeletal
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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]
Skin
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Hirsutism
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]
Psychiatrical
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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]
Treatment
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 - 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]
Treatment Treatment Options: No treatment is available for this disorder. References [disorders.eyes.arizona.edu]
[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.com]
Diagnosis and treatment The condition is diagnosed by the presence of the typical physical characteristics, and the unusually slow growth. Confirmation is by molecular genetic testing. [news-medical.net]
Prognosis
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 - Cerebro-oculo-facio-skeletal syndrome Not supplied. Treatment - Cerebro-oculo-facio-skeletal syndrome Treatment for COFS syndrome involves supportive care and is based on an individual's symptoms. [checkorphan.org]
Counseling should include information on the diagnosis and prognosis (antenatal, intrapartum, postnatal, and long term), and information regarding future pregnancies. 65, 66 The fetus diagnosed with PSS has a poor prognosis. [dovepress.com]
The prognosis for those with Cockayne syndrome is poor, as death typically occurs by the age of 12. [en.wikipedia.org]
Etiology
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]
Sporadic and familial occurrences have been described subsequently depending on the underlying etiology. [dovepress.com]
Epidemiology
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]
Pathophysiology
PubMed Central PubMed View Article Google Scholar Laugel V, Dalloz C, Stary A, Cormier-Daire V, Desguerre I, Renouil M, Fourmaintraux A, Velez-Cruz R, Egly JM, Sarasin A, Dollfus H: Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology [ojrd.biomedcentral.com]
EMH was responsible for sections on pathophysiology and genetics. MC was responsible for sections on postnatal care and prognosis. The authors report no conflicts of interest in this work. 1. Kowalczyk B, Felus J. [dovepress.com]
Prevention
[…] 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 [news-medical.net]
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]
[…] by changes in the white matter of the brain (known as leukodystrophy) deafness development of visual problems due to retinitis pigmentosa bones show thinning, the back becomes curved and there will be joint contractures (stiffness of the joint that prevents [contact.org.uk]
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 [ninds.nih.gov]
Prevention should commence as soon as primary teeth erupt. Oral hygiene should be maintained even when gastrostomy feeding is used. [ojrd.biomedcentral.com]