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]

• Dysostosis

  Acrofacial Dysostosis Acrofacial Dysostosis 1, Nager Type Acrofacial Dysostosis 1, Nager Type acrofacial dysostosis syndrome Acrofacial Dysostosis, Catania Type acrofacial dysostosis, Weyers type acrofacial syndrome Acrofrontofacionasal Dysostosis Syndrome [medical-dictionary.thefreedictionary.com]

  What is the definition of Acrofacial Dysostosis Weyers Type? Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. [medifind.com]

  The clinical findings of our patient are consistent with the features of Weyers acrofacial dysostosis. [ FULL TEXT ] [ PDF ]* [amhsjournal.org]

  Other Names for This Condition Acrodental dysostosis of Weyers Curry-Hall syndrome Weyers acrodental dysostosis References Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW. [medlineplus.gov]

  Acrofacial Dysostoses ⌊ Preaxial Acrofacial Dysostosis Syndromes ⌊ Postaxial Acrofacial Dysostosis Syndromes ⌊ Acrofacial Dysostosis Rodriguez Type ⌊ Richieri-Costa Guion Almeida Acrofacial Dysostosis ⌊ Acrofacial Dysostosis Catania Form (Opitz-Mollica-Sorge [wellnessadvocate.com]

• Short Stature

  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]

  SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome Related symptoms: Short stature Generalized hypotonia Growth delay Hypertelorism Strabismus SOURCES: OMIM ORPHANET MENDELIAN More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT [mendelian.co]

• Anemia

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Hypokalemic Periodic Paralysis September [checkrare.com]

  6 RPL11 Diamond-Blackfan anemia 7 RPL15 Diamond-Blackfan anemia 12 RPL26 Diamond-Blackfan anemia 11 RPL35A Diamond-Blackfan anemia 5 RPS6KA3 (=RSK2) +del+dup Coffin-Lowry syndrome (CLS) Mental retardation, X-linked 19 (MRX19) RPS7 Diamond-Blackfan anemia [uniklinik-freiburg.de]

  Rogers Professor and Chair of Anesthesiology and Critical Care, Johns Hopkins School of Medicine, Baltimore, MD “Hospital-Acquired Anemia: A Hazard of Hospitalization” Allen I. [cumc.columbia.edu]

  Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Nat Acad Sci USA, 103:15927-15932. 2006. [genome.gov]

  […] in all children. 3 View/Print Table TABLE 4 Baseline Tests to Assess Underlying Causes of Apparent Life-Threatening Events in Children Evaluation Diagnosis Chest radiography* Infection, cardiomegaly Complete blood count and differential* Infection, anemia [aafp.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]

• Short Finger

  […] hand Disproportionately small hands 0200055 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Brachydactyly Short fingers or toes 0001156 Hypotelorism Abnormally close eyes Closely spaced eyes [rarediseases.info.nih.gov]

  Short palm Small nail Clinodactyly of the 5th finger Polydactyly Mild short stature Posteriorly rotated ears Seizures Short foot Thoracic dysplasia Anal atresia Postaxial polydactyly Micromelia Hyperlordosis Metatarsus adductus Gastroesophageal reflux [mendelian.co]

  Figure 1 Patient at the age of 5 years showing long narrow chest and shortness of the limbs. Full size image Figure 2 Bilateral polydactyly with short fingers in EVC patient. [ojrd.biomedcentral.com]

• Pertussis

  Severe and unrecognised: pertussis in UK infants. Arch Dis Child. 2003;88:802–6. 17. Samuels MP, Poets CF, Noyes JP, Hartmann H, Hewertson J, Southall DP. [aafp.org]

• Failure to Thrive

  […] to thrive, facial dysmorphism, ambiguous, genitalia, syndactyly, postaxial polydactyly, Hirschprung disease, cardiac and renal malformations Autosomal recessive Rutledge 73 Joint contractures, cerebellar hypoplasia, renal hypoplasia, ambiguous genitalia [glowm.com]

  She presented with postnatal-onset failure to thrive, microcephaly, velopalatal incompetence, pectus excavatum, aortic coarctation, and atrial and ventricular septal defects. [genome.jp]

  […] to thrive-microcephaly due to ASXL3 deficiency syndrome Severe intellectual disability and progressive spastic paraplegia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-progressive postnatal [se-atlas.de]

• 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]

  Any kind of blockage is heart disease; when you have a blood clot anywhere, that’s heart disease. When Wilt Chamberlain died, strongest man I ever met in my life, I started paying attention. [espn.com]

• Dysplastic Ears

  ears and thumb malformation) [25], KAL1 (Kallman syndrome) [26], GATA3 (Renal hypodysplasia is associated with Hypothyroidism and sensory-neural deafness) [27]. [emedicine.medscape.com]

• Brachydactyly

  The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. [ncbi.nlm.nih.gov]

  Diseases related with Brachydactyly and Small hand In the following list you will find some of the most common rare diseases related to Brachydactyly and Small hand that can help you solving undiagnosed cases. [mendelian.co]

  PMID: 8456838 A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. Tonoki H, Kishino T, Niikawa N. Tonoki H, et al. Am J Med Genet. 1990 May;36(1):89-93. doi: 10.1002/ajmg.1320360117. Am J Med Genet. 1990. [pubmed.ncbi.nlm.nih.gov]

  […] type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow [se-atlas.de]

• 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]

  Disproportionate dwarfism, heart defect and thoracic dysplasia are not present in this autosomal dominant condition. Genetic counseling EVC syndrome is an autosomal recessive disorder, with a mendelian risk of 25% for subsequent pregnancies. [ojrd.biomedcentral.com]

• Severe Short Stature

  OR WITHOUT POLYDACTYLY; SRTD3 Top 5 symptoms//phenotypes associated to Brachydactyly and Small hand Symptoms // Phenotype % cases Short stature Very Common - Between 80% and 100% cases Severe short stature Uncommon - Between 30% and 50% cases Short metacarpal [mendelian.co]

• Aggressive Behavior

  X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive [se-atlas.de]

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]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

I am committed to forming a treatment plan that will help my patients to resume their desired activities as soon as possible. [beaumontbone.com]

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]

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]

The dental literature describing the oral manifestations and etiology of both syndromes is scarce. [manipal.pure.elsevier.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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

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]

Epidemiology[edit] According to OMIM,[4] this condition has been described in 13 people worldwide.[3][5][6][7][8] Discovery[edit] It was first discovered in 1995 by Temple et al. when he described 5 unrelated children, some of which had been described [en.wikipedia.org]

View in: PubMed Mentions: Fields: Translation:Humans Hypospadias in California: trends and descriptive epidemiology. Epidemiology. 2003 Nov; 14(6):701-6. Carmichael SL, Shaw GM, Nelson V, Selvin S, Torfs CP, Curry CJ. PMID: 14569186. [profiles.ucsf.edu]

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]

Thus, we advocate to differentiate preaxial or postaxial oriented GLI3 phenotypes to explain the pathophysiology as well as to get a risk assessment for corpus callosum agenesis. [jmg.bmj.com]

Ellis MJ, Leddy J, Willer B. (2016) Multi-Disciplinary Management of Athletes with Post-Concussion Syndrome: An Evolving Pathophysiological Approach. [medicine.buffalo.edu]

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]

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]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. [ggc.org]