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Conductive deafness-ptosis-skeletal anomalies syndrome

MedGen UID:
347428
•Concept ID:
C1857340
•
Disease or Syndrome
Synonyms: Deafness conductive ptosis skeletal anomalies; DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES; Jackson Barr syndrome
SNOMED CT: Jackson Barr syndrome (763213001); Conductive deafness, ptosis, skeletal anomalies syndrome (763213001)
 
Monarch Initiative: MONDO:0009084
OMIM®: 221320
Orphanet: ORPHA3236

Definition

A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. [from SNOMEDCT_US]

Clinical features

From HPO
Clinodactyly of the 5th finger
MedGen UID:
340456
•Concept ID:
C1850049
•
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
See: Feature record | Search on this feature
Conductive hearing impairment
MedGen UID:
9163
•Concept ID:
C0018777
•
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
See: Feature record | Search on this feature
Atresia of the external auditory canal
MedGen UID:
78613
•Concept ID:
C0266597
•
Congenital Abnormality
Absence or failure to form of the external auditory canal.
See: Feature record | Search on this feature
Chronic otitis media
MedGen UID:
75751
•Concept ID:
C0271441
•
Disease or Syndrome
Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
See: Feature record | Search on this feature
Abnormality of the dentition
MedGen UID:
78084
•Concept ID:
C0262444
•
Finding
Any abnormality of the teeth.
See: Feature record | Search on this feature
Ectodermal dysplasia
MedGen UID:
8544
•Concept ID:
C0013575
•
Disease or Syndrome
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
See: Feature record | Search on this feature
Ptosis
MedGen UID:
2287
•Concept ID:
C0005745
•
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVConductive deafness-ptosis-skeletal anomalies syndrome
Follow this link to review classifications for Conductive deafness-ptosis-skeletal anomalies syndrome in Orphanet.

Professional guidelines

PubMed

Current Concepts in Diagnosis and Treatment of Functional Neurological Disorders.
Espay AJ, Aybek S, Carson A, Edwards MJ, Goldstein LH, Hallett M, LaFaver K, LaFrance WC Jr, Lang AE, Nicholson T, Nielsen G, Reuber M, Voon V, Stone J, Morgante F
JAMA Neurol 2018 Sep 1;75(9):1132-1141. doi: 10.1001/jamaneurol.2018.1264. PMID: 29868890Free PMC Article
Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline.
Legro RS, Arslanian SA, Ehrmann DA, Hoeger KM, Murad MH, Pasquali R, Welt CK; Endocrine Society
J Clin Endocrinol Metab 2013 Dec;98(12):4565-92. Epub 2013 Oct 22 doi: 10.1210/jc.2013-2350. PMID: 24151290Free PMC Article
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Autoimmune Encephalitis Resembling Dementia Syndromes.
Bastiaansen AEM, van Steenhoven RW, de Bruijn MAAM, Crijnen YS, van Sonderen A, van Coevorden-Hameete MH, Nühn MM, Verbeek MM, Schreurs MWJ, Sillevis Smitt PAE, de Vries JM, Jan de Jong F, Titulaer MJ
Neurol Neuroimmunol Neuroinflamm 2021 Sep;8(5) Epub 2021 Aug 2 doi: 10.1212/NXI.0000000000001039. PMID: 34341093Free PMC Article
The psychopharmacology of catatonia, neuroleptic malignant syndrome, akathisia, tardive dyskinesia, and dystonia.
Sienaert P, van Harten P, Rhebergen D
Handb Clin Neurol 2019;165:415-428. doi: 10.1016/B978-0-444-64012-3.00025-3. PMID: 31727227
Acute stress cardiomyopathy.
Wittstein IS
Curr Heart Fail Rep 2008 Jun;5(2):61-8. doi: 10.1007/s11897-008-0011-3. PMID: 18765075
Nutrition in clinical practice-the refeeding syndrome: illustrative cases and guidelines for prevention and treatment.
Stanga Z, Brunner A, Leuenberger M, Grimble RF, Shenkin A, Allison SP, Lobo DN
Eur J Clin Nutr 2008 Jun;62(6):687-94. Epub 2007 Aug 15 doi: 10.1038/sj.ejcn.1602854. PMID: 17700652
CHARGE syndrome.
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article

Diagnosis

Imaging features of neurosyphilis.
Corrêa DG, de Souza SR, Freddi TAL, Fonseca APA, Dos Santos RQ, Hygino da Cruz LC Jr
J Neuroradiol 2023 Mar;50(2):241-252. Epub 2023 Jan 11 doi: 10.1016/j.neurad.2023.01.003. PMID: 36641134
Herlyn-Werner-Wunderlich syndromne: case review and report of the literature.
Gutiérrez-Montufar OO, Zambrano-Moncayo CP, Otálora-Gallego MC, Meneses-Parra AL, Díaz-Yamal I
Rev Colomb Obstet Ginecol 2021 Dec 30;72(4):407-422. doi: 10.18597/rcog.3699. PMID: 35134287Free PMC Article
Sunflower syndrome: a poorly understood photosensitive epilepsy.
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
Electrical impedance tomography in acute respiratory distress syndrome.
Bachmann MC, Morais C, Bugedo G, Bruhn A, Morales A, Borges JB, Costa E, Retamal J
Crit Care 2018 Oct 25;22(1):263. doi: 10.1186/s13054-018-2195-6. PMID: 30360753Free PMC Article
Acute stress cardiomyopathy.
Wittstein IS
Curr Heart Fail Rep 2008 Jun;5(2):61-8. doi: 10.1007/s11897-008-0011-3. PMID: 18765075

Therapy

Sunflower syndrome: a poorly understood photosensitive epilepsy.
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
PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review.
Samanta D
Pediatr Neurol 2020 Apr;105:3-9. Epub 2019 Nov 30 doi: 10.1016/j.pediatrneurol.2019.10.009. PMID: 32057594
Cannabis for the Treatment of Epilepsy: an Update.
Gaston TE, Szaflarski JP
Curr Neurol Neurosci Rep 2018 Sep 8;18(11):73. doi: 10.1007/s11910-018-0882-y. PMID: 30194563
Risk factors for bruxism.
Kuhn M, Türp JC
Swiss Dent J 2018 Feb 12;128(2):118-124. PMID: 29533049
Depression during Pregnancy.
Pearlstein T
Best Pract Res Clin Obstet Gynaecol 2015 Jul;29(5):754-64. Epub 2015 Apr 17 doi: 10.1016/j.bpobgyn.2015.04.004. PMID: 25976080

Prognosis

Autoimmune Encephalitis Resembling Dementia Syndromes.
Bastiaansen AEM, van Steenhoven RW, de Bruijn MAAM, Crijnen YS, van Sonderen A, van Coevorden-Hameete MH, Nühn MM, Verbeek MM, Schreurs MWJ, Sillevis Smitt PAE, de Vries JM, Jan de Jong F, Titulaer MJ
Neurol Neuroimmunol Neuroinflamm 2021 Sep;8(5) Epub 2021 Aug 2 doi: 10.1212/NXI.0000000000001039. PMID: 34341093Free PMC Article
Congenital anomalies and comorbidities in neonates with Down Syndrome.
Nakousi Capurro N, Cares Basualto C, Alegría Olivos A, Gaínza Lein M, López Aristizabal L, Gayan Torrente A, Ojeda Contreras V, Irarrázaval Montero MJ
Rev Chil Pediatr 2020 Oct;91(5):732-742. doi: 10.32641/rchped.vi91i5.1518. PMID: 33399638
Electrical impedance tomography in acute respiratory distress syndrome.
Bachmann MC, Morais C, Bugedo G, Bruhn A, Morales A, Borges JB, Costa E, Retamal J
Crit Care 2018 Oct 25;22(1):263. doi: 10.1186/s13054-018-2195-6. PMID: 30360753Free PMC Article
Acute stress cardiomyopathy.
Wittstein IS
Curr Heart Fail Rep 2008 Jun;5(2):61-8. doi: 10.1007/s11897-008-0011-3. PMID: 18765075
Insulin resistance syndrome.
Fletcher B, Lamendola C
J Cardiovasc Nurs 2004 Sep-Oct;19(5):339-45. doi: 10.1097/00005082-200409000-00009. PMID: 15495894

Clinical prediction guides

Syndromic forms of congenital hyperinsulinism.
Zenker M, Mohnike K, Palm K
Front Endocrinol (Lausanne) 2023;14:1013874. Epub 2023 Mar 30 doi: 10.3389/fendo.2023.1013874. PMID: 37065762Free PMC Article
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE
J Clin Immunol 2023 May;43(4):794-807. Epub 2023 Feb 3 doi: 10.1007/s10875-023-01443-5. PMID: 36735193
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D
Int J Mol Sci 2022 Oct 19;23(20) doi: 10.3390/ijms232012564. PMID: 36293418Free PMC Article
Autoimmune Encephalitis Resembling Dementia Syndromes.
Bastiaansen AEM, van Steenhoven RW, de Bruijn MAAM, Crijnen YS, van Sonderen A, van Coevorden-Hameete MH, Nühn MM, Verbeek MM, Schreurs MWJ, Sillevis Smitt PAE, de Vries JM, Jan de Jong F, Titulaer MJ
Neurol Neuroimmunol Neuroinflamm 2021 Sep;8(5) Epub 2021 Aug 2 doi: 10.1212/NXI.0000000000001039. PMID: 34341093Free PMC Article
Holt-Oram syndrome.
Smith AT, Sack GH Jr, Taylor GJ
J Pediatr 1979 Oct;95(4):538-43. doi: 10.1016/s0022-3476(79)80758-1. PMID: 480027

Recent systematic reviews

Global prevalence of Rett syndrome: systematic review and meta-analysis.
Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S
Syst Rev 2023 Jan 16;12(1):5. doi: 10.1186/s13643-023-02169-6. PMID: 36642718Free PMC Article
Advances in Pathogenesis of Sjögren's Syndrome.
Tian Y, Yang H, Liu N, Li Y, Chen J
J Immunol Res 2021;2021:5928232. Epub 2021 Oct 7 doi: 10.1155/2021/5928232. PMID: 34660815Free PMC Article
Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.
Gertz MA, Dispenzieri A
JAMA 2020 Jul 7;324(1):79-89. doi: 10.1001/jama.2020.5493. PMID: 32633805
The association between endometriosis and autoimmune diseases: a systematic review and meta-analysis.
Shigesi N, Kvaskoff M, Kirtley S, Feng Q, Fang H, Knight JC, Missmer SA, Rahmioglu N, Zondervan KT, Becker CM
Hum Reprod Update 2019 Jul 1;25(4):486-503. doi: 10.1093/humupd/dmz014. PMID: 31260048Free PMC Article
Milk and Dairy Product Consumption and Inflammatory Biomarkers: An Updated Systematic Review of Randomized Clinical Trials.
Ulven SM, Holven KB, Gil A, Rangel-Huerta OD
Adv Nutr 2019 May 1;10(suppl_2):S239-S250. doi: 10.1093/advances/nmy072. PMID: 31089732Free PMC Article

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