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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.
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).
Recurrent patellar dislocation
MedGen UID:
592395
Concept ID:
C0409412
Injury or Poisoning
Patellar dislocation occurring repeated times.

Professional guidelines

PubMed

Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA
J Clin Endocrinol Metab 2017 Mar 1;102(3):709-757. doi: 10.1210/jc.2016-2573. PMID: 28359099Free PMC Article
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
Verbalis JG, Goldsmith SR, Greenberg A, Korzelius C, Schrier RW, Sterns RH, Thompson CJ
Am J Med 2013 Oct;126(10 Suppl 1):S1-42. doi: 10.1016/j.amjmed.2013.07.006. PMID: 24074529

Recent clinical studies

Etiology

Varagur K, Sanka SA, Strahle JM
Neurosurg Clin N Am 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. PMID: 34801143Free PMC Article
Keith KA, Reed LK, Nguyen A, Qaiser R
Neurosurg Clin N Am 2022 Jan;33(1):135-148. doi: 10.1016/j.nec.2021.09.010. PMID: 34801137
Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
Poh TY, Mac Aogáin M, Chan AK, Yii AC, Yong VF, Tiew PY, Koh MS, Chotirmall SH
Expert Rev Respir Med 2017 Apr;11(4):285-298. Epub 2017 Mar 24 doi: 10.1080/17476348.2017.1305895. PMID: 28282995
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Diagnosis

Koster MJ, Samec MJ, Warrington KJ
J Clin Rheumatol 2023 Sep 1;29(6):298-306. Epub 2022 Oct 17 doi: 10.1097/RHU.0000000000001905. PMID: 36251488
Keith KA, Reed LK, Nguyen A, Qaiser R
Neurosurg Clin N Am 2022 Jan;33(1):135-148. doi: 10.1016/j.nec.2021.09.010. PMID: 34801137
De Wel B, Claeys KG
Curr Opin Neurol 2021 Oct 1;34(5):714-720. doi: 10.1097/WCO.0000000000000963. PMID: 34914668
Geenen KR, Patel S, Thiele EA
Dev Med Child Neurol 2021 Mar;63(3):259-262. Epub 2020 Oct 31 doi: 10.1111/dmcn.14723. PMID: 33135153
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J
Acta Ophthalmol 2020 Dec;98(8):e1034-e1048. Epub 2020 Jun 1 doi: 10.1111/aos.14479. PMID: 32483926Free PMC Article

Therapy

Dou Z, Xia Y, Zhang J, Li Y, Zhang Y, Zhao L, Huang Z, Sun H, Wu L, Han D, Liu Y
Front Endocrinol (Lausanne) 2021;12:728032. Epub 2021 Dec 23 doi: 10.3389/fendo.2021.728032. PMID: 35002950Free PMC Article
Saha S, Roy P, Corbitt C, Kakar SS
Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240Free PMC Article
Geenen KR, Patel S, Thiele EA
Dev Med Child Neurol 2021 Mar;63(3):259-262. Epub 2020 Oct 31 doi: 10.1111/dmcn.14723. PMID: 33135153
Kagan R, Kellogg-Spadt S, Parish SJ
Drugs Aging 2019 Oct;36(10):897-908. doi: 10.1007/s40266-019-00700-w. PMID: 31452067Free PMC Article
Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206Free PMC Article

Prognosis

Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O, Morel JB, Titah C, Saadoun D, Lazeran PO, Meunier I
Clin Genet 2023 Apr;103(4):453-458. Epub 2022 Dec 30 doi: 10.1111/cge.14286. PMID: 36543582
Košutova P, Mikolka P
Physiol Res 2021 Dec 30;70(Suppl4):S567-S583. doi: 10.33549/physiolres.934767. PMID: 35199544Free PMC Article
Tan Tanny SP, Beck C, King SK, Hawley A, Brooks JA, McLeod E, Hutson JM, Teague WJ
Pediatrics 2021 May;147(5) doi: 10.1542/peds.2020-029884. PMID: 33911029
Cristescu Teodor R, Mihaltan FD
Rom J Ophthalmol 2019 Jan-Mar;63(1):2-9. PMID: 31198891Free PMC Article
Park CY, Lee JK, Chuck RS
BMC Ophthalmol 2018 Oct 25;18(1):276. doi: 10.1186/s12886-018-0939-3. PMID: 30359246Free PMC Article

Clinical prediction guides

Balaji S, Johnson P, Dvorak AV, Kolind SH
Curr Opin Neurol 2022 Aug 1;35(4):467-474. Epub 2022 Jul 5 doi: 10.1097/WCO.0000000000001078. PMID: 35788545
Boßelmann CM
Seizure 2021 Nov;92:230-233. Epub 2021 Sep 27 doi: 10.1016/j.seizure.2021.09.019. PMID: 34607271
Nazerian P, Mueller C, Soeiro AM, Leidel BA, Salvadeo SAT, Giachino F, Vanni S, Grimm K, Oliveira MT Jr, Pivetta E, Lupia E, Grifoni S, Morello F; ADvISED Investigators
Circulation 2018 Jan 16;137(3):250-258. Epub 2017 Oct 13 doi: 10.1161/CIRCULATIONAHA.117.029457. PMID: 29030346
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
Wijdicks EF, Bamlet WR, Maramattom BV, Manno EM, McClelland RL
Ann Neurol 2005 Oct;58(4):585-93. doi: 10.1002/ana.20611. PMID: 16178024

Recent systematic reviews

Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206Free PMC Article
Sorensen CJ, DeSanto K, Borgelt L, Phillips KT, Monte AA
J Med Toxicol 2017 Mar;13(1):71-87. Epub 2016 Dec 20 doi: 10.1007/s13181-016-0595-z. PMID: 28000146Free PMC Article
Fhon JR, Rodrigues RA, Neira WF, Huayta VM, Robazzi ML
Rev Esc Enferm USP 2016 Nov-Dec;50(6):1005-1013. doi: 10.1590/S0080-623420160000700018. PMID: 28198967
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340
Terelak-Borys B, Skonieczna K, Grabska-Liberek I
Med Sci Monit 2012 Aug;18(8):RA138-144. doi: 10.12659/msm.883260. PMID: 22847215Free PMC Article

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