Presentation
Bilateral inguinal herniae were present from 3 months and repaired at 4 months of age. Ophthalmological examination showed a hypoplastic left disc and a small coloboma of the right disc. [jmg.bmj.com]
[…] the corpus callosum Underdevelopment of part of brain called corpus callosum 0002079 Inguinal hernia 0000023 Micropenis Short penis Small penis [ more ] 0000054 Microtia Small ears Underdeveloped ears [ more ] 0008551 Natal tooth Born with teeth Teeth present [rarediseases.info.nih.gov]
Entire Body System
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Developmental Delay
delay hypoplastic corpus callosum dilated virchow-robin spaces Genitourinary External Genitalia Male: inguinal hernia short penis Head And Neck Face: smooth philtrum Cardiovascular Vascular: patent ductus arteriosus Prenatal Manifestations Amniotic Fluid [malacards.org]
Symptoms - Sener syndrome * Small teeth * Mouth occlusion * Abnormal tissue webbing between cheeks and gum * Thin hair * Abnormal nails * Mild developmental delay Causes - Sener syndrome Not supplied. Prevention - Sener syndrome Not supplied. [checkorphan.org]
Five of these children were said to have coarse or dysmorphic features and the remainder were referred with headaches, seizures, or developmental delay. [jmg.bmj.com]
delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperopic astigmatism 0000484 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypodontia Failure of development of between one and six teeth 0000668 Hypoplasia [rarediseases.info.nih.gov]
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Inguinal Hernia
hernia short penis Head And Neck Face: smooth philtrum Cardiovascular Vascular: patent ductus arteriosus Prenatal Manifestations Amniotic Fluid: polyhydramnios Skin Nails Hair Skin: eczema Head And Neck Ears: posteriorly rotated ears small ears Head [malacards.org]
Bilateral inguinal herniae were present from 3 months and repaired at 4 months of age. Ophthalmological examination showed a hypoplastic left disc and a small coloboma of the right disc. [jmg.bmj.com]
hernia 0000023 Micropenis Short penis Small penis [ more ] 0000054 Microtia Small ears Underdeveloped ears [ more ] 0008551 Natal tooth Born with teeth Teeth present at birth [ more ] 0000695 Patent ductus arteriosus 0001643 Perivascular spaces 0012520 [rarediseases.info.nih.gov]
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Nail Abnormality
She was also noted to have thin hair and nail abnormalities. The author suggested that her features were consistent with ectodermal dysplasia and that her condition was slowly progressive in nature. No karyotype was reported for this patient. [jmg.bmj.com]
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Nail Abnormality
She was also noted to have thin hair and nail abnormalities. The author suggested that her features were consistent with ectodermal dysplasia and that her condition was slowly progressive in nature. No karyotype was reported for this patient. [jmg.bmj.com]
Gastrointestinal
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Diarrhea
[…] synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal: chronic diarrhea [malacards.org]
Showing of 25 Percent of people who have these symptoms is not available through HPO Anteriorly placed anus 0001545 Chronic diarrhea 0002028 Coarse hair Coarse hair texture 0002208 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 [rarediseases.info.nih.gov]
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Chronic Diarrhea
[…] clinical synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal: chronic [malacards.org]
Showing of 25 Percent of people who have these symptoms is not available through HPO Anteriorly placed anus 0001545 Chronic diarrhea 0002028 Coarse hair Coarse hair texture 0002208 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 [rarediseases.info.nih.gov]
Jaw & Teeth
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High Arched Palate
Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal [malacards.org]
Dysmorphic features noted at birth included hypertelorism, a persistent large posterior fontanelle, a large anterior fontanelle, a narrow, high arched palate with midline cleft of the upper alveolar margin, two neonatal teeth, and a right inguinal hernia [jmg.bmj.com]
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Small Teeth
Symptoms - Sener syndrome * Small teeth * Mouth occlusion * Abnormal tissue webbing between cheeks and gum * Thin hair * Abnormal nails * Mild developmental delay Causes - Sener syndrome Not supplied. Prevention - Sener syndrome Not supplied. [checkorphan.org]
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Microdontia
7] ] Other causes for the persistence of primary teeth include translation or transmigration of successor teeth, existence of pathology, such as cysts, tumors, and odontoma under the primary tooth that results in the impaction of successor teeth and microdontia [jorr.org]
Skin
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Eruptions
Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal: chronic diarrhea anteriorly placed anus Head And Neck Teeth: hypodontia neonatal teeth delayed eruption [malacards.org]
Showing of 25 Percent of people who have these symptoms is not available through HPO Anteriorly placed anus 0001545 Chronic diarrhea 0002028 Coarse hair Coarse hair texture 0002208 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 [rarediseases.info.nih.gov]
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Eczema
[…] virchow-robin spaces Genitourinary External Genitalia Male: inguinal hernia short penis Head And Neck Face: smooth philtrum Cardiovascular Vascular: patent ductus arteriosus Prenatal Manifestations Amniotic Fluid: polyhydramnios Skin Nails Hair Skin: eczema [malacards.org]
[…] of 25 Percent of people who have these symptoms is not available through HPO Anteriorly placed anus 0001545 Chronic diarrhea 0002028 Coarse hair Coarse hair texture 0002208 Delayed eruption of permanent teeth Delayed eruption of adult teeth 0000696 Eczema [rarediseases.info.nih.gov]
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Alopecia
2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]
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Sparse Hair
In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]
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Alopecia
2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]
Face, Head & Neck
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Hypertelorism
Figure 1 (A, B) Front and side view of case 1 showing hypertelorism, a wide mouth, and posteriorly rotated ears. [jmg.bmj.com]
Symptoms via clinical synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism entropion hyperopic astigmatism Abdomen External Features: umbilical hernia Skin Nails Hair Hair: coarse hair Head And Neck Mouth: wide mouth high-arched palate Abdomen Gastrointestinal [malacards.org]
[…] eruption of permanent teeth Delayed eruption of adult teeth 0000696 Eczema 0000964 Entropion Eyelid turned in 0000621 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperopic astigmatism 0000484 Hypertelorism [rarediseases.info.nih.gov]
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Large Anterior Fontanels
Features noted at birth included neck oedema, a large anterior fontanelle (6 cm 7 cm), a short penis with a large scrotum, and an anteriorly placed anus. [jmg.bmj.com]
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Large Anterior Fontanels
Features noted at birth included neck oedema, a large anterior fontanelle (6 cm 7 cm), a short penis with a large scrotum, and an anteriorly placed anus. [jmg.bmj.com]
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Pierre Robin Syndrome
Brainstem dysgenesis: Möbius, Cogan and Pierre Robin syndromes revisited. in Anales de Pediatría 62, 346–351 (Elsevier, 2005). 3. Roig-Quilis M, Pennington L. Oromotor disorders arising from the brainstem. In: Roig-Quilis M, Pennington L, editors. [moebiussyndrome.info]
Neurologic
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Delayed Milestone
He had delayed milestones of development in the form of not able to stand or walk and not spoken a word. He had microcephaly ( 3 rd centile) without any neurocutaneous marker or facial asymmetry. [ncbi.nlm.nih.gov]
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Insomnia
Updates to genetics and circadian rhythms, occupational health, sleep in older people, memory and sleep, physical examination of the patient, comorbid insomnias, and much more keep you current on the newest areas of the field. [books.google.com]
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Language Delays
delays were observed in 60%, 82%, 92%, 54%, 48%, 35%, 53%, 20%, and 46% of patients, respectively. 8 Our patient had truncal obesity, acanthosis nigricans, retinal degeneration, mental retardation, sensorineural deafness, hyperinsulinism, type 2 diabetes [pediatrics.aappublications.org]
Workup
Serum
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Hypertriglyceridemia
[…] loss, insulin resistance and obesity, and cardiomyopathy in infancy or adolescence. 3, 5 Other features that may present are short stature, bladder instability, chronic renal and hepatic dysfunction, early-onset type 2 diabetes, and hypothyroidism, hypertriglyceridemia [pediatrics.aappublications.org]
Treatment
Treatment - Sener syndrome Not supplied. Resources - Sener syndrome Not supplied. [checkorphan.org]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
Prognosis
Prognosis - Sener syndrome Not supplied. Treatment - Sener syndrome Not supplied. Resources - Sener syndrome Not supplied. [checkorphan.org]
Prognosis The prognosis of BSD depends on the cause and extent of the disruptive lesion or the impact of the abnormal developmental process involving the BS. [moebiussyndrome.info]
Treatment and prognosis Disease progression is variable in the cases reported in the literature. To date, no specific treatment is available although medical management of epilepsy, edema and raised intracranial pressure is often required 5. [radiopaedia.org]
Prognosis is influenced by the occurrence of intussusception and malignant tumors associated with Peutz-Jeghers syndrome. Therefore, long-term careful follow-up is important. [ci.nii.ac.jp]
Sturge-Weber syndrome: Age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol. 10: 49. 51. Sullivan TJ, Clarke MP, Morin JD. 1992. The ocular manifestations of the Sturge-Weber syndrome. [med-expert.com.ua]
Etiology
However, the underlying etiologies remain unknown in most of the cases and are yet to be elucidated. [bmcophthalmol.biomedcentral.com]
The most important signs of inelastic tendon etiology include positive forced duction that is worse with retropulsion, intorsion in upgaze, and negative forced duction after transecting the superior oblique tendon. [emedicine.medscape.com]
Absence of other possible etiologies B. Inducible clonus plus agitation or diaphoresis 3. No recent addition or increase of a neuroleptic agent C. Ocular clonus plus agitation or diaphoresis 4. [physio-pedia.com]
Probable parasitic etiology was eliminated by negative reaction of the decalcified slides with methanamine silver. [ajnr.org]
In conclusion, the etiology of LCC remains unknown. In spite of relatively characteristic findings in imaging and histopathological examination, there is no uniformity in the clinical findings noted in the published articles. [scielo.br]
Epidemiology
Trisomies 13 and 18: prenatal diagnosis and epidemiologic studies in Hawaii, 1986-1997. Genet Test 3(4):335-40, 1999. 31 12. Redheendran R, Neu RL, Bannerman RM. [passeidireto.com]
[…] activity results in increased enzyme substrate and abnormal actin-binding proteins important in neuronal morphogenesis. [4, 5] Fibroblast activity was found to be decreased by 80%-90% in patients with Lowe syndrome compared to healthy controls. [6] Epidemiology [emedicine.medscape.com]
Pathophysiology
Nephrotic syndrome: new concepts in the pathophysiology of sodium retention. J. Nephrology. 2008; 21 (6): 836–842. 2. Rondon-Berries H. New insights into the pathophysiology of oedema in nephritic syndrome. Nefrologia. 2011; 31 (2): 148–154. 3. [pf.spr-journal.ru]
The underlying pathophysiology is thought to be a diffuse cerebral microangiopathy resulting in initially microcystic, followed by macrocystic, parenchymal degeneration 1. [radiopaedia.org]
Pathophysiology of Sturge-Weber syndrome. J Child Neurol. 18(8): 509—516. ; PMid:13677575 18. Demougeot C, Garnier P, Mossiat C. 2001. [med-expert.com.ua]
Osteoarthritis Spondylolisthesis Obesity Smoking Malnutrition Lack of physical exercise or daily activity Pathophysiology [ edit ] 55% of facet syndrome cases occur in cervical vertebrae, and 31% in lumbar. [en.wikipedia.org]
These imaging findings support increased water content rather than a demyelinating process in the pathophysiology of the disease, which is in accordance with the reports. 1, 2 The increased water within the white matter—namely, perifocal white matter [ajnr.org]
Prevention
Prevention - Sener syndrome Not supplied. Diagnosis - Sener syndrome The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Sener syndrome. [checkorphan.org]
Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. [ghr.nlm.nih.gov]
A thread sutured to the packing will prevent to forget the packing in the nasopharynx. [egms.de]
Low-dose spinal anesthesia for Cesarean section to prevent spinal-induced hypotension. Curr Opin Anaesthesiol. 2008;21:259-262. Loubert C. [medigraphic.com]