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]

In this case report, we present the oral and radiographic findings of a 7-year-old girl consistent with the diagnosis of Weyers acrofacial dysostosis. Through this detailed discussion, we aim to contribute to the literature. [go.gale.com]

Acronym WAD Synonyms Acrodental dysostosis of Weyers Curry-Hall syndrome Weyers acrofacial dysostosis Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Nail Abnormality

  Overview Curry-Hall syndrome (medical condition): A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs. [checkorphan.org]

  In addition to tooth and nail abnormalities, 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. [medifind.com]

  Small nail MedGen UID: 537942 • Concept ID: C0263523 • Finding Nail dysplasia MedGen UID: 331737 • Concept ID: C1834405 • Congenital Abnormality The presence of developmental dysplasia of the nail. [ncbi.nlm.nih.gov]

• Disproportionate Dwarfism

  Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, 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 disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by {4:Howard et al., 1997}). [diseaseinfosearch.org]

• Disorder of Digit

  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]

• Normal Hair

  Examination of his scalp showed normal hair quantity, quality, and structure. There was no history of sweat gland dysfunction. [amhsjournal.org]

• Acrogeria

  […] enteropathica acrodermatitis hiemalis acrodermatosis acrodolichomelia acrodont acrodynia acrodysesthesia acrodysostosis Acroeponym acroesthesia acrofacial acrofacial dysostosis Acrofacial Dysostosis 1, Nager Type acrofacial dysostosis, Weyers type acrogenous acrogeria [medical-dictionary.thefreedictionary.com]

Clinical Testing and Workup Specialized x-ray studies will confirm the presence and/or extent of certain observed craniofacial abnormalities. [rarediseases.org]

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]

However, these beliefs are false 8 Autism: Treatment Behavioral training Physical/speech therapy The best form of treatment changes as the child grows 9 Autism: History Term “autism” coined in 1911 First described by Dr. Leo Kanner in 1943. [slideplayer.com]

A small number of patients have transient temperature irregularities following treatment or experience a temporary increase in seizure frequency several weeks after treatment. [rarediseases.org]

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]

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]

Early, accurate prenatal diagnosis of cloacal exstrophy is also advantageous as it provides an opportunity for discussing the child’s prognosis, particularly bowel, bladder, and sexual function. [uptodate.com]

[…] the ability to culture and characterize the etiologic agent. [books.google.es]

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

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]

Khoury et al., 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]

M.S., Syracuse University, Department of Exercise ScienceSpecialization: Exercise Endocrinology B.S., Cortland State University, Major: Physical Education, Teaching Certification Teaching Specialties Clinical Cardiovascular Physiology/Pathophysiology [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]

Suchetana Goswami Department of Pedodontics and Preventive Dentistry, Dr. R. [amhsjournal.org]

Prevention - Curry Hall syndrome Not supplied. [checkorphan.org]

Prevention of the main childhood disease, rotavirus-induced diarrhea, rests with the recently introduced vaccines. [asmscience.org]