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]

Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments [books.google.com]

• Feeding Difficulties

  They also exhibit a predominantly postnatal growth failure, a severe psychomotor retardation, with axial hypotonia and peripheral hypertonia and neonatal feeding difficulties. [ncbi.nlm.nih.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]

• Coxa Valga

  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]

• 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]

• 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 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]

[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.com]

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 is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. [secure.ssa.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 - 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]

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

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]

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]

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]

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]

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]

[…] 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]

However, a variety of treatments can sometimes prevent further damage and help with complications. [icdlist.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 [ninds.nih.gov]