Presentation
A complete eye examination is important to determine if glaucoma or other eye disease is present. In severe cases, a corneal transplant can improve vision, and, of course, it is important to treat glaucoma if present. [disorders.eyes.arizona.edu]
We present a child with an MCA pattern of sclerocornea, hypertelorism, pterygium colli, upper limb syndactyly, ambiguous genitalia, abnormal ears and nose, umbilical hernia, congenital heart disease, and normal chromosomes (46,XX). [ncbi.nlm.nih.gov]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Entire Body System
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Feeding Difficulties
A 2,000-g infant boy had many features of the Smith-Lemli-Opitz syndrome (prenatal growth deficiency and developmental retardation, microcephaly with unusual facies, hypospadias, and feeding difficulties) as well as sclerocornea. [ncbi.nlm.nih.gov]
Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems [findzebra.com]
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Arachnodactyly
Antonialli, GPM, Oliveira, MM, Melaragno, MIsabel SA, Casteels, I, de Ravel, T, Brunoni, D, Valle, D, Perez, ABeatriz A JournalAm J Med Genet A Volume164A Issue5 Pagination1170-4 Date Published2014 May ISSN1552-4833 Keywords Abnormalities, Multiple, Adult, Arachnodactyly [mendelian.org]
[…] short palpebral fissures, bilateral sclerocornea, nystagmus, strabismus, hypoplastic alae nase with prominent columela and depressed nasal tip, malar hypoplasia, prominent everted lips, prominent, low set and posterior angulated ears, pectus escavatum, arachnodactyly [ashg.org]
Musculoskeletal
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Osteopenia
[…] sclerosis of mastoid cells, thoracic and lumbar scoliosis, gracile ribs, narrow iliac, slender long bones, mild bowing of femur and fibula, shortened ulna not articulated with the radius, long metatarsus, bilateral valgus deformity of the halluces and osteopenia [ashg.org]
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Hand Deformity
Deformities, Congenital, Homozygote, Humans, Male, Phenotype, Radiography, Scavenger Receptors, Class F, Sequence Analysis, DNA, Sequence Deletion, Young Adult Abstract Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized [mendelian.org]
Eyes
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Corneal Opacity
corneal opacity interfering with vision Congenital corneal opacity interfering with vision (disorder) Congenital corneal opacity not interfering with vision Congenital corneal opacity not interfering with vision (disorder) Congenital corneal opacity [averbis.com]
His second case had congenital staphyloma in one eye with microphthalmos and central corneal opacity in the other. [healio.com]
File Size: 71 KB Related: Corneal opacity, Peters anomaly, CHED, Axenfeld-Reiger syndrome, Sclerocornea, Dermoid, mucopolysaccharidoses, Mucolipidoses, Cystinosis, Megalocornea, Microcornea, Cornea plana, Corectopia, Aniridia, Coloboma Pediatric Ophth [aao.org]
Opacity Female Follow-Up Studies Humans Infant Keratoplasty, Penetrating Ultrasonography [scholars.duke.edu]
Face, Head & Neck
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Beak Nose
Van den Ende-Gupta Syndrome (VDEGS) (OMIM - 600920) is a rare autosomal recessive disease characterized by blepharophimosis, beaked nose, hypoplastic maxila, skeletal abnormalities (hooked clavicles, gracile ribs, bowed long bones) and normal psychomotor [ashg.org]
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Beaked Nose
Van den Ende-Gupta Syndrome (VDEGS) (OMIM - 600920) is a rare autosomal recessive disease characterized by blepharophimosis, beaked nose, hypoplastic maxila, skeletal abnormalities (hooked clavicles, gracile ribs, bowed long bones) and normal psychomotor [ashg.org]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Treatment Treatment Options: Severe cases in which the central media is compromised may require corneal transplantation. Glaucoma requires treatment as well. [disorders.eyes.arizona.edu]
In most of our patients, the diagnostic process was underway, but in one patient 22q11.2 deletion was not suspected until after the child had already been undergoing treatment for sclerocornea for 2 years. [ncbi.nlm.nih.gov]
Treatment includes correction of the refractive error but in cases of central corneal opacification keratoplasty may be indicated. sclerocornea the sclera and cornea regarded as one. [medical-dictionary.thefreedictionary.com]
Master the latest advances in ophthalmology: radical changes in the management of macular disease, including the widespread introduction of VEGF inhibitor therapy; recent developments in the investigation and treatment of retinal vascular disease; new [books.google.ro]
Prognosis
Diagnosis and Prognosis: The disorder is suspected when simple inspection reveals loss of corneal clarity. Only an eye specialist can determine if this is sclerocornea and not another disorder such as congenital glaucoma. [disorders.eyes.arizona.edu]
What is the visual prognosis like in CAS? What are our responsibilities in treating a patient with CAS? try not to let the eye dry out too much make sure the eye isn't hurting. [studyblue.com]
Treatment: Penetrating keratoplasty has been performed for central corneal involvement but some authors feel the visual prognosis is probably not sufficient to warrant the procedure. [missionforvisionusa.org]
Libido: Home Testing: * Home Hormone Tests * Home Libido Tests * Home Menopause Tests * Home Andropause Tests * Liver Health: Home Testing * Home Hepatitis Tests * Home Liver Tests * Vision & Eye Health: Home Testing: * Home Eye Tests * Home Vision Tests Prognosis [checkorphan.org]
Etiology
A developmental anomaly with various manifestation and associated with other ocular abnormalities would appear to be the etiology. One of the cases also had extrophia vesicae, an association that has not been previously described. [ncbi.nlm.nih.gov]
Etiologically, all these cases are presumably developmental as maternal and obstetric histories were normal in all cases. [healio.com]
Etiology: Approximately one half the cases are stated to be familial; autosomal dominant and recessive patterns of inheritance have been described. The other ½ of cases are sporadic. [missionforvisionusa.org]
On the etiology of keratocyte loss during contact lens wear. Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3011-20. Dumbleton KA, Chalmers RL, Richter DB, Fonn D. [siliconehydrogels.org]
Etiology Inborn error of metabolism Enzyme deficiency leads to a block in a metabolic pathway, which results in accumulation of material in the cornea. [entokey.com]
Epidemiology
PURPOSE: To investigate the molecular epidemiological basis for the unusually high incidence of sclerocornea, aphakia, and microphthalmia in a village in the Tlaxcala province of central Mexico. [ncbi.nlm.nih.gov]
[…] with sclerocornea. ( 25149931 ) 2014 9 Epithelial phenotype in total sclerocornea. ( 24744607 ) 2014 10 Immunohistochemical expression and distribution of proteoglycans and collagens in sclerocornea. ( 23325424 ) Bouhenni R....Edward D.P. 2013 11 An epidemiological [malacards.org]
Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet. 1998;75(5):497–504. Bondunde OT, Ajibode HA. [hsd-fmsb.org]
Epidemiology and control of gonococcal ophthalmia neonatorum. Bull World Health Organ. 1989; 67(5): 471–477. 40. [slideshare.net]
Pathophysiology
Pathophysiology Genetic, developmental, metabolic, and idiopathic factors are implicated as the pathophysiologic basis for congenital clouding of the cornea. A common reason for congenital clouding of the cornea is congenital glaucoma. [odlarmed.com]
CONGENITAL GLAUCOMA continued… PATHOPHYSIOLOGY : Raised IOP Rapid enlargement of eye Stretching of cornea Breaks in Descemet’s membrane Endothelial barrier is disturbed Corneal oedema and clouding 16. CONGENITAL GLAUCOMA continued… 17. [slideshare.net]
Prevention
Dense opacification of both corneas prevented adequate examination of both anterior and posterior segments of the eye. UBM was performed preoperatively with subsequent corneal transplantation of the left eye. [ncbi.nlm.nih.gov]
Slit lamp examination disclosed diffuse, full thickness opacification, which was more severe in her left eye (fig 1A), preventing examination of the anterior chamber. [doi.org]
Prevention - Sclerocornea- Syndactyly- ambiguous genitalia Not supplied. [checkorphan.org]