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Say-field-Coldwell syndrome

MedGen UID:
348711
•Concept ID:
C1860805
•
Disease or Syndrome
Synonyms: Polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence; Triphalangeal thumbs and dislocation of patella
SNOMED CT: Triphalangeal thumb and dislocation of patella syndrome (733456002); Say Field Coldwell syndrome (733456002)
 
Monarch Initiative: MONDO:0008606
OMIM®: 190650

Definition

Say-Field-Coldwell syndrome is characterized by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. [from MONDO]

Clinical features

From HPO
Triphalangeal thumb
MedGen UID:
66029
•Concept ID:
C0241397
•
Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
See: Feature record | Search on this feature
Short stature
MedGen UID:
87607
•Concept ID:
C0349588
•
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
See: Feature record | Search on this feature
Recurrent patellar dislocation
MedGen UID:
592395
•Concept ID:
C0409412
•
Injury or Poisoning
Patellar dislocation occurring repeated times.
See: Search on this feature
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Professional guidelines

PubMed

International Consensus Statement on Obstructive Sleep Apnea.
Chang JL, Goldberg AN, Alt JA, Mohammed A, Ashbrook L, Auckley D, Ayappa I, Bakhtiar H, Barrera JE, Bartley BL, Billings ME, Boon MS, Bosschieter P, Braverman I, Brodie K, Cabrera-Muffly C, Caesar R, Cahali MB, Cai Y, Cao M, Capasso R, Caples SM, Chahine LM, Chang CP, Chang KW, Chaudhary N, Cheong CSJ, Chowdhuri S, Cistulli PA, Claman D, Collen J, Coughlin KC, Creamer J, Davis EM, Dupuy-McCauley KL, Durr ML, Dutt M, Ali ME, Elkassabany NM, Epstein LJ, Fiala JA, Freedman N, Gill K, Gillespie MB, Golisch L, Gooneratne N, Gottlieb DJ, Green KK, Gulati A, Gurubhagavatula I, Hayward N, Hoff PT, Hoffmann OMG, Holfinger SJ, Hsia J, Huntley C, Huoh KC, Huyett P, Inala S, Ishman SL, Jella TK, Jobanputra AM, Johnson AP, Junna MR, Kado JT, Kaffenberger TM, Kapur VK, Kezirian EJ, Khan M, Kirsch DB, Kominsky A, Kryger M, Krystal AD, Kushida CA, Kuzniar TJ, Lam DJ, Lettieri CJ, Lim DC, Lin HC, Liu SYC, MacKay SG, Magalang UJ, Malhotra A, Mansukhani MP, Maurer JT, May AM, Mitchell RB, Mokhlesi B, Mullins AE, Nada EM, Naik S, Nokes B, Olson MD, Pack AI, Pang EB, Pang KP, Patil SP, Van de Perck E, Piccirillo JF, Pien GW, Piper AJ, Plawecki A, Quigg M, Ravesloot MJL, Redline S, Rotenberg BW, Ryden A, Sarmiento KF, Sbeih F, Schell AE, Schmickl CN, Schotland HM, Schwab RJ, Seo J, Shah N, Shelgikar AV, Shochat I, Soose RJ, Steele TO, Stephens E, Stepnowsky C, Strohl KP, Sutherland K, Suurna MV, Thaler E, Thapa S, Vanderveken OM, de Vries N, Weaver EM, Weir ID, Wolfe LF, Woodson BT, Won CHJ, Xu J, Yalamanchi P, Yaremchuk K, Yeghiazarians Y, Yu JL, Zeidler M, Rosen IM
Int Forum Allergy Rhinol 2023 Jul;13(7):1061-1482. Epub 2023 Mar 30 doi: 10.1002/alr.23079. PMID: 36068685Free PMC Article
Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline.
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J Clin Endocrinol Metab 2017 Mar 1;102(3):709-757. doi: 10.1210/jc.2016-2573. PMID: 28359099Free PMC Article
Clinical practice guideline on diagnosis and treatment of hyponatraemia.
Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125

Recent clinical studies

Etiology

Scleroderma and scleroderma-like syndromes.
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Neurovascular Syndromes.
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Expert Rev Respir Med 2017 Apr;11(4):285-298. Epub 2017 Mar 24 doi: 10.1080/17476348.2017.1305895. PMID: 28282995

Diagnosis

Scleroderma and scleroderma-like syndromes.
Romanowska-Próchnicka K, Dziewit M, Lesiak A, Reich A, Olesińska M
Front Immunol 2024;15:1351675. Epub 2024 Jun 3 doi: 10.3389/fimmu.2024.1351675. PMID: 38887288Free PMC Article
Syndromic Craniofacial Disorders.
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Overgrowth syndromes, diagnosis and management.
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Autoinflammatory syndromes.
Meier-Schiesser B, French LE
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Therapy

Application of Stem Cell Therapy for Infertility.
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Twiddler's syndrome.
Dharawat R, Saadat M
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Nat Rev Urol 2011 Jul 5;8(9):495-503. doi: 10.1038/nrurol.2011.99. PMID: 21727941

Prognosis

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Juvenile acanthosis nigricans.
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Epilepsy in children.
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The Cohen syndrome.
Fryns JP, Van den Berghe H
J Genet Hum 1981 Dec;29(4):449-53. PMID: 7328419

Clinical prediction guides

Venous Anomalies in Overgrowth Syndromes.
Santiago J, Chaudry G
Tech Vasc Interv Radiol 2024 Jun;27(2):100962. Epub 2024 Jun 14 doi: 10.1016/j.tvir.2024.100962. PMID: 39168551
Molecular Mechanisms Involved in Craniosynostosis.
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Combined and complex vascular malformations.
Clemens RK, Pfammatter T, Meier TO, Alomari AI, Amann-Vesti BR
Vasa 2015 Mar;44(2):92-105. doi: 10.1024/0301-1526/a000414. PMID: 25698387
Genetic generalized epilepsies.
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J Clin Neurophysiol 2012 Oct;29(5):408-19. doi: 10.1097/WNP.0b013e31826bd92a. PMID: 23027098
Syndromes of aging.
Frolkis VV
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Recent systematic reviews

Stroke warning syndrome.
Sales C, Calma AD
Clin Neurol Neurosurg 2022 Feb;213:107120. Epub 2022 Jan 10 doi: 10.1016/j.clineuro.2022.107120. PMID: 35074686
Oral Mucosal Melanoma.
Nisi M, Izzetti R, Gennai S, Pucci A, Lenzi C, Graziani F
J Craniofac Surg 2022 May 1;33(3):830-834. Epub 2021 Jul 30 doi: 10.1097/SCS.0000000000008054. PMID: 34334749
Fear and anxiety managing methods during dental treatments: a systematic review of recent data.
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Minerva Stomatol 2019 Dec;68(6):317-331. doi: 10.23736/S0026-4970.19.04288-2. PMID: 32052621
Congenital varicella syndrome: A systematic review.
Ahn KH, Park YJ, Hong SC, Lee EH, Lee JS, Oh MJ, Kim HJ
J Obstet Gynaecol 2016 Jul;36(5):563-6. Epub 2016 Mar 10 doi: 10.3109/01443615.2015.1127905. PMID: 26965725
PLATEAU IRIS--DIAGNOSIS AND TREATMENT.
Stefan C, Iliescu DA, Batras M, Timaru CM, De Simone A
Rom J Ophthalmol 2015 Jan-Mar;59(1):14-8. PMID: 27373109Free PMC Article

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