Compare your findings to more than 3,300 outstanding illustrations that capture the characteristic presentation of every type of lesion. Avoid diagnostic pitfalls using Dr.[books.google.com]
We report an 11-year-old boy who presented with onychodystrophy, supernumerary tooth, hypodontia or agenesis of teeth, hyperplastic labial frenulum, polydactyly of the hands and feet, and mild short stature.[amhsjournal.org]
These findings were not observed in the present case. On the contrary, our patient showed polydactyly in both hands and left foot.[amhsjournal.org]
Weyers acrodental dysostosis Weyers acrofacial dysostosis Prevalence: Unknown Inheritance: Autosomal dominant Age of onset: Neonatal ICD-10: Q75.4 OMIM: 193530 UMLS: C0457013 MeSH: C536695 GARD: 497 MedDRA: - The documents contained in this web site are presented[orpha.net]
However, varied expression exists, some affected cases may occasionally present as male pseudohermaphrodites (genital ambiguity). TABLE 2.[glowm.com]
Weyers acrofacial dysostosis appears to be a rare disorder. Only a few affected families have been identified worldwide. Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene.[ghr.nlm.nih.gov]
The clinical findings of our patient are consistent with the features of Weyers acrofacial dysostosis. [ FULL TEXT ] [ PDF ]*[amhsjournal.org]
Weyers acrofacial dysostosis (Curry-Hall Syndrome): Report of a rare case.[amhsjournal.org]
From HPO Mild shortstature MedGen UID: 461427 • Concept ID: C3150077 • Finding A mild degree of shortstature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.[ncbi.nlm.nih.gov]
[…] disease or phenotype associations Type phenotype Description Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short[amp.pharm.mssm.edu]
Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild shortstature.[ncbi.nlm.nih.gov]
As such, it should be useful to a varied audience, including not only the oral and maxillofacial surgeon but also the oral pathologist, the practitioner of oral medicine, and members of the craniofacial team--the orthodontist, pediatric dentist, speech[books.google.com]
The term was coined after the pathologist Edith Potter, who in 1946 described the facial characteristics of infants with bilateral renal agenesis. [1] From her research, she was able to deduce the sequence of events that lead to these features.[emedicine.medscape.com]
Overview Curry-Hall syndrome (medical condition): A rare disorder characterized by facial abnormalities and extra digits, nailabnormalities and short limbs.[checkorphan.org]
In addition to tooth and nailabnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.[ncbi.nlm.nih.gov]
Overview Curry-Hall syndrome (medical condition): A rare disorder characterized by facial abnormalities and extra digits, nailabnormalities and short limbs.[checkorphan.org]
In addition to tooth and nailabnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.[ncbi.nlm.nih.gov]
CrossRef Google Scholar Volume 112, Issue 10 October 1998, pp. 976-978 While evaluating a 61-year-old patient for stridor we incidentally detected a double epiglottis.[journals.cambridge.org]
., Greenberg, M. and Magit, A. (2005) Congenital Stridor Secondary to an Upper Airway Cyst in a Patient with Ellis-Van Creveld Syndrome.[scirp.org]
[…] shallow, gasping, increased Color: pallor, red, purple, blue, peripheral, whole body, circumoral Movement and tone: rigid, tonic-clonic, decreased, floppy Observations of productive cough, vomiting: mucus, blood, or noise (silent, cough, gag, wheeze, stridor[aafp.org]
Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heartdisease (summary by Howard et al., 1997).[ncbi.nlm.nih.gov]
Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heartdisease (summary by {4:Howard et al., 1997}).[diseaseinfosearch.org]
EVC is a more serious type of disorder with additional features of thoracic dysplasia and congenital heartdisease.[amhsjournal.org]
Newsletters These in-depth electronic publications cover major health topics, including men's and women's health, diabetes, and heartdisease.[nhbullrunfamilymedicine.org]
Ahmed Dental College and Hospital, Kolkata, West Bengal India Source of Support: None, Conflict of Interest: None DOI: 10.4103/amhs.amhs_37_18 Weyers acrofacial dysostosis (Curry-Hall syndrome) is a rare autosomal dominant skeletaldysplasia manifest[amhsjournal.org]
In addition to the developmental defects of teeth, bones, and nails, people with EVC have congenital cardiac defects, short ribs, and thoracic dysplasia. [6], [7], [8], [9], [10] WAD is a very rare skeletaldysplasia.[amhsjournal.org]
dysplasia Hutchinson-Gilford progeria syndrome hydrocephalus, agyria, and retinal dysplasia see Walker-Warburg syndrome hydrops - ectopic calcification - moth-eaten skeletaldysplasia see Greenberg dysplasia hypercalcemia-supravalvar aortic stenosis[herenciageneticayenfermedad.blogspot.com]
Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletaldysplasia that is also known as chondroectodermal dysplasia.[mybiosource.com]
dysplasia-epilepsy-short stature syndrome Slender bone dysplasia Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia Solitary median maxillary central incisor syndrome Spastic ataxia-corneal dystrophy[se-atlas.de]
Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionatedwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997).[ncbi.nlm.nih.gov]
Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionatedwarfism, thoracic dysplasia, and congenital heart disease (summary by {4:Howard et al., 1997}).[diseaseinfosearch.org]
Orofacial digital syndromes are a heterogeneous group of genetic disorders characterized by the anomalies of the face, oral cavity, and polydactyly. The presence of nail defects in our case makes this diagnosis unlikely.[amhsjournal.org]
An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather and during exercise, because the body cannot cool itself by evaporating sweat.The immune deficiency in EDA-ID varies among individuals[icdlist.com]
HSAN type V see hereditary sensory and autonomic neuropathy type V HSAN V see hereditary sensory and autonomic neuropathy type V HSAN2 see hereditary sensory and autonomic neuropathy type II HSAN4 see congenital insensitivity to pain with anhidrosis[herenciageneticayenfermedad.blogspot.com]
A successful diagnostic workup may be the end of the odyssey for clinicians, but for patients and families the diagnostic quest is just one phase in the life cycle of genetic disorders.[thednaexchange.com]
[…] be called Noonan syndrome, pigmented villonodular synovitis, central giant cell granuloma, or cherubism, because each of these is a specific diagnostic entity sui generis and the use of such terms results in nosologic blinders that tend to limit the workup[genome.jp]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
Treatment - Curry Hall syndrome * Eye Health Specialists (Ophthalmology): o Ophthalmology (Eye Specialist) Resources - Curry Hall syndrome Not supplied.[checkorphan.org]
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]
Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
Diagnosis - Curry Hall syndrome Home medical testing related to Acrofacial dysostosis, Weyers type: * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis - Curry Hall syndrome Not supplied.[checkorphan.org]
Efficiently review the clinical presentation, gross and microscopic features, ultrastructural and immunohistochemical findings, differential diagnosis, therapy, and prognosis for virtually every pathologic entity.[books.google.com]
Prognosis The prognosis for an individual with PHS and no known family history of PHS is based on the malformations present in the individual.[atlasgeneticsoncology.org]
Scimitar syndrome : incidence, treatment and prognosis. Eur J Pediatr 2008; 167: 155-60. - Singh A, Sharma N. Anaesthetic Management of Scimitar Syndrome: A Case Report.[sites.uclouvain.be]
Management is thus suboptimal and ABS prognosis remains poor.[ispub.com]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
[…] the ability to culture and characterize the etiologic agent.[books.google.es]
Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the Sonic hedgehog-patched-GLI pathway. Am. J. Med. Genet. 146A: 2589-2597, 2008. Temple, I. K., Eccles, D. M., Winter, R.[med2000eco.it]
Etiology The underlying etiology of these events varies. An ALTE should be viewed as a manifestation of other conditions rather than a diagnosis in and of itself.[aafp.org]
Relevant External Links for EVC2 Genetic Association Database (GAD) EVC2 Human Genome Epidemiology (HuGE) Navigator EVC2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: EVC2 No data available for Genatlas for EVC2 Gene A novel heterozygous[genecards.org]
Vol. 18 of Monographs in epidemiology and biostatistics. New York: Oxford University Press, 1991. 19. Rzany B, Mockenhaupt M, Baur S, et al.[nejm.org]
Lifestyle Medicine; Epidemiology of Lifestyle Related Diseases. 2nd Edition. Taylor and Francis Group/CRC Press. Boca Raton, FL. 2011 Published Books and Monographs Collier SR.[hes.appstate.edu]
From our three clinical cases, we first looked at the epidemiology, clinical features and prognosis of disease. Then we discussed the etiological theories & pathogenesis, risks factors, natural course and therapeutic possibilities of ABS.[ispub.com]
., Genetic-epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity. Am. J. Med. Genet. 44 (1992) 668–675. PubMed CrossRef Google Scholar Verloes, A., C. Elmer, D.[link.springer.com]
However, in contrast to the cardiorenal syndrome which is ill defined and has a somewhat nebulous pathophysiology, the Pickering Syndrome is clearly defined and its pathophysiological mechanisms have been precisely delineated.[academic.oup.com]
Alkjaersig N, Fletcher A, Lewis M, Cole B, Ingelfinger J, Robson A (1976) Pathophysiological response of the blood coagulation system in acute glomerulonephritis. Kidney Int 10:319–328 PubMed Google Scholar 2.[link.springer.com]
., Cortland State University, Major: Physical Education, Teaching Certification Teaching Specialties Clinical Cardiovascular Physiology/Pathophysiology Vascular Biology Current Courses Being Taught ES 3700 ES 5645 Professional Affiliations / Organizations[hes.appstate.edu]
However, no explanations for the pathophysiology and other details have been discussed as these are beyond the scope of this manuscript.[e-ijd.org]
Pathophysiology Prior to 16 weeks' gestations, the amount of amniotic fluid is dependent on the transmembrane flow. After that, fetal urine production is the predominant mechanism that determines the amniotic fluid volume.[emedicine.medscape.com]
Prevention of the main childhood disease, rotavirus-induced diarrhea, rests with the recently introduced vaccines.[asmscience.org]
Delayed development of motor skills Highly sensitive, may be overstimulated by lights, strong tastes/textures, and loud noises 3 Asperger’s Syndrome: Causes The exact cause is unknown Not preventable Often is hereditary Genetic cause is being searched[slideplayer.com]