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]

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]

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]

• Dysostosis

  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]

  ORPHA:952 Synonym(s): Curry-Hall syndrome 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: - [orpha.net]

  People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. [ncbi.nlm.nih.gov]

• Short Stature

  From HPO Mild short stature MedGen UID: 461427 • Concept ID: C3150077 • Finding A mild degree of short stature, 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]

• 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. [ncbi.nlm.nih.gov]

• Dentist

  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]

• Stridor

  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]

  Article Metrics Article contents Abstract References Abstract While evaluating a 61-year-old patient for stridor we incidentally detected a double epiglottis. [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]

• Heart Disease

  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]

  Newsletters These in-depth electronic publications cover major health topics, including men's and women's health, diabetes, and heart disease. [nhbullrunfamilymedicine.org]

  EVC is a more serious type of disorder with additional features of thoracic dysplasia and congenital heart disease. [amhsjournal.org]

• Microdontia

  Citation metadata Main content Abstract : Weyers acrofacial dysostosis is a rare type of ectodermal dysplasia syndrome characterized by mild short stature, postaxial polydactyly, dystrophic nails, and dental anomalies (hypodontia, microdontia, taurodontism [go.gale.com]

• 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]

• Osteopenia

  Polydactyly with ectodermal defect, osteopenia, and mental delay. J Child Neurol. 2008 Jun;23(6):683-9. doi: 10.1177/0883073807309778. Epub 2008 Jan 8. [ghr.nlm.nih.gov]

  Polydactyly with ectodermal defect, osteopenia, and mental delay. J Child Neurol. 2008 Jun;23(6):683-9. doi: 10.1177/0883073807309778. Epub 2008 Jan 8. Citation on PubMed [medlineplus.gov]

  Galloway-Mowat syndrome Geleophysic dysplasia Genetic syndrome with limb reduction defects Genitopatellar syndrome Genochondromatosis type 1 Genochondromatosis type 2 Geroderma osteodysplastica Ghosal hematodiaphyseal dysplasia Global developmental delay-osteopenia-ectodermal [se-atlas.de]

• 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]

• Severe Short Stature

  short stature Uncommon - Between 30% and 50% cases Short metacarpal Uncommon - Between 30% and 50% cases Limb undergrowth Uncommon - Between 30% and 50% cases Long philtrum Uncommon - Between 30% and 50% cases Other less frequent symptoms Patients with [mendelian.co]

• Sweating

  There was no history of sweat gland dysfunction. The clinical findings of our patient are consistent with the features of Weyers acrofacial dysostosis. [ FULL TEXT ] [ PDF ]* [amhsjournal.org]

  […] fewer sweat glands than normal or their sweat glands do not function properly. [icdlist.com]

  […] syndrome Coffin-Siris syndrome cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia see CHOPS syndrome cold hypersensitivity see familial cold autoinflammatory syndrome cold-induced sweating [herenciageneticayenfermedad.blogspot.com]

• Normal Hair

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

• Anhidrosis

  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]

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]

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]

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]

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]

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]

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]

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]

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]