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Ataxia-photosensitivity-short stature syndrome

MedGen UID:
1655873
•Concept ID:
C4751230
•
Disease or Syndrome
Synonym: Fenton Wilkinson Toselano syndrome
SNOMED CT: Ataxia, photosensitivity, short stature syndrome (773769008); Fenton Wilkinson Toselano syndrome (773769008)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015248
Orphanet: ORPHA1184

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtaxia-photosensitivity-short stature syndrome

Professional guidelines

PubMed

Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article
Turner syndrome: mechanisms and management.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803

Recent clinical studies

Etiology

Short stature in genetic syndromes: Selected issues.
Łaczmańska I, Kuliczkowska-Płaksej J, Stembalska A
Adv Clin Exp Med 2018 Mar;27(3):409-414. doi: 10.17219/acem/67051. PMID: 29558022
Genetic short stature.
Grunauer M, Jorge AAL
Growth Horm IGF Res 2018 Feb;38:29-33. Epub 2017 Dec 6 doi: 10.1016/j.ghir.2017.12.003. PMID: 29249624
Tall stature: a difficult diagnosis?
Meazza C, Gertosio C, Giacchero R, Pagani S, Bozzola M
Ital J Pediatr 2017 Aug 3;43(1):66. doi: 10.1186/s13052-017-0385-5. PMID: 28774346Free PMC Article
Waist-to-height ratio is a better screening tool than waist circumference and BMI for adult cardiometabolic risk factors: systematic review and meta-analysis.
Ashwell M, Gunn P, Gibson S
Obes Rev 2012 Mar;13(3):275-86. Epub 2011 Nov 23 doi: 10.1111/j.1467-789X.2011.00952.x. PMID: 22106927
Overgrowth.
Verge CF, Mowat D
Arch Dis Child 2010 Jun;95(6):458-63. Epub 2010 Apr 6 doi: 10.1136/adc.2009.157693. PMID: 20371592

Diagnosis

Short and Long-Term Effects of Growth Hormone in Children and Adolescents With GH Deficiency.
Ranke MB
Front Endocrinol (Lausanne) 2021;12:720419. Epub 2021 Sep 1 doi: 10.3389/fendo.2021.720419. PMID: 34539573Free PMC Article
Tall stature in children and adolescents.
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Etiologies and early diagnosis of short stature and growth failure in children and adolescents.
Rogol AD, Hayden GF
J Pediatr 2014 May;164(5 Suppl):S1-14.e6. doi: 10.1016/j.jpeds.2014.02.027. PMID: 24731744
Waist-to-height ratio is a better screening tool than waist circumference and BMI for adult cardiometabolic risk factors: systematic review and meta-analysis.
Ashwell M, Gunn P, Gibson S
Obes Rev 2012 Mar;13(3):275-86. Epub 2011 Nov 23 doi: 10.1111/j.1467-789X.2011.00952.x. PMID: 22106927
Overgrowth.
Verge CF, Mowat D
Arch Dis Child 2010 Jun;95(6):458-63. Epub 2010 Apr 6 doi: 10.1136/adc.2009.157693. PMID: 20371592

Therapy

Endocrinological manifestations in RASopathies.
Tamburrino F, Scarano E, Schiavariello C, Perri A, Pession A, Mazzanti L
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):471-477. Epub 2022 Nov 19 doi: 10.1002/ajmg.c.32013. PMID: 36401574
Short and Long-Term Effects of Growth Hormone in Children and Adolescents With GH Deficiency.
Ranke MB
Front Endocrinol (Lausanne) 2021;12:720419. Epub 2021 Sep 1 doi: 10.3389/fendo.2021.720419. PMID: 34539573Free PMC Article
Syndromic disorders with short stature.
Şıklar Z, Berberoğlu M
J Clin Res Pediatr Endocrinol 2014;6(1):1-8. doi: 10.4274/Jcrpe.1149. PMID: 24637303Free PMC Article
Growth hormone therapy.
Bajpai A, Menon PS
Indian J Pediatr 2005 Feb;72(2):139-44. doi: 10.1007/BF02760699. PMID: 15758537
Growth hormone therapy.
Wit JM
Best Pract Res Clin Endocrinol Metab 2002 Sep;16(3):483-503. doi: 10.1053/beem.2002.0206. PMID: 12464230

Prognosis

Growth charts in DYRK1A syndrome.
Lanvin PL, Goronflot T, Isidor B, Nizon M, Durand B, El Chehadeh S, Geneviève D, Ruault V, Fradin M, Pasquier L, Thévenon J, Delobel B, Burglen L, Afenjar A, Faivre L, Francannet C, Guerrot AM, Goldenberg A, Mercier S, Héron D, Lehalle D, Mignot C, Marey I, Charles P, Moutton S, Bézieau S, Bayat A, Piton A, Willems M, Vincent M
Am J Med Genet A 2024 Jan;194(1):9-16. Epub 2023 Sep 22 doi: 10.1002/ajmg.a.63412. PMID: 37740550
Tall stature in children and adolescents.
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Effect of growth hormone treatment on children with idiopathic short stature (ISS), idiopathic growth hormone deficiency (IGHD), small for gestational age (SGA) and Turner syndrome (TS) in a tertiary care center.
Al Shaikh A, Daftardar H, Alghamdi AA, Jamjoom M, Awidah S, Ahmed ME, Soliman AT
Acta Biomed 2020 Mar 19;91(1):29-40. doi: 10.23750/abm.v91i1.9182. PMID: 32191651Free PMC Article
Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Overgrowth.
Ambler G
Best Pract Res Clin Endocrinol Metab 2002 Sep;16(3):519-46. doi: 10.1053/beem.2002.0207. PMID: 12464232

Clinical prediction guides

Tall stature in children and adolescents.
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Long-term effects and significant Adverse Drug Reactions (ADRs) associated with the use of Gonadotropin-Releasing Hormone analogs (GnRHa) for central precocious puberty: a brief review of literature.
De Sanctis V, Soliman AT, Di Maio S, Soliman N, Elsedfy H
Acta Biomed 2019 Sep 6;90(3):345-359. doi: 10.23750/abm.v90i3.8736. PMID: 31580327Free PMC Article
Tall stature: a difficult diagnosis?
Meazza C, Gertosio C, Giacchero R, Pagani S, Bozzola M
Ital J Pediatr 2017 Aug 3;43(1):66. doi: 10.1186/s13052-017-0385-5. PMID: 28774346Free PMC Article
Overgrowth.
Ambler G
Best Pract Res Clin Endocrinol Metab 2002 Sep;16(3):519-46. doi: 10.1053/beem.2002.0207. PMID: 12464232
Growth hormone therapy.
Wit JM
Best Pract Res Clin Endocrinol Metab 2002 Sep;16(3):483-503. doi: 10.1053/beem.2002.0206. PMID: 12464230

Recent systematic reviews

Impact of short stature on quality of life: A systematic literature review.
Backeljauw P, Cappa M, Kiess W, Law L, Cookson C, Sert C, Whalen J, Dattani MT
Growth Horm IGF Res 2021 Apr-Jun;57-58:101392. Epub 2021 Apr 30 doi: 10.1016/j.ghir.2021.101392. PMID: 33975197
Risk factors for diabetic foot complications in type 2 diabetes-A systematic review.
Rossboth S, Lechleitner M, Oberaigner W
Endocrinol Diabetes Metab 2021 Jan;4(1):e00175. Epub 2020 Aug 17 doi: 10.1002/edm2.175. PMID: 33532615Free PMC Article
Risk factors for patellofemoral pain: a systematic review and meta-analysis.
Neal BS, Lack SD, Lankhorst NE, Raye A, Morrissey D, van Middelkoop M
Br J Sports Med 2019 Mar;53(5):270-281. Epub 2018 Sep 21 doi: 10.1136/bjsports-2017-098890. PMID: 30242107
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Waist-to-height ratio is a better screening tool than waist circumference and BMI for adult cardiometabolic risk factors: systematic review and meta-analysis.
Ashwell M, Gunn P, Gibson S
Obes Rev 2012 Mar;13(3):275-86. Epub 2011 Nov 23 doi: 10.1111/j.1467-789X.2011.00952.x. PMID: 22106927

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