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Rare disorder with ptosis

MedGen UID:
1843136
•Concept ID:
C5681651
•
Disease or Syndrome
Orphanet: ORPHA98578

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRare disorder with ptosis

Professional guidelines

PubMed

Evaluation and management of urethral and periurethral masses in women.
Zuo SW, Napoe GS
Curr Opin Obstet Gynecol 2023 Dec 1;35(6):517-524. Epub 2023 Aug 29 doi: 10.1097/GCO.0000000000000914. PMID: 37678190
Clinical and imaging clues to the diagnosis and follow-up of ptosis and ophthalmoparesis.
Keene KR, Kan HE, van der Meeren S, Verbist BM, Tannemaat MR, Beenakker JM, Verschuuren JJGM
J Cachexia Sarcopenia Muscle 2022 Dec;13(6):2820-2834. Epub 2022 Sep 29 doi: 10.1002/jcsm.13089. PMID: 36172973Free PMC Article
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article

Recent clinical studies

Etiology

Psychogenic Ptosis.
Ho TC, Couch SM, Custer PL
Ophthalmic Plast Reconstr Surg 2022 Sep-Oct 01;38(5):448-451. Epub 2022 Mar 23 doi: 10.1097/IOP.0000000000002157. PMID: 35323142
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Monosomy 18p.
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Myasthenia gravis.
Juel VC, Massey JM
Orphanet J Rare Dis 2007 Nov 6;2:44. doi: 10.1186/1750-1172-2-44. PMID: 17986328Free PMC Article
A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements.
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555

Diagnosis

Anorectal Emergencies.
Drezdzon MK, Peterson CY
Surg Clin North Am 2023 Dec;103(6):1153-1170. Epub 2023 Jul 21 doi: 10.1016/j.suc.2023.05.014. PMID: 37838461
Psychogenic Ptosis.
Ho TC, Couch SM, Custer PL
Ophthalmic Plast Reconstr Surg 2022 Sep-Oct 01;38(5):448-451. Epub 2022 Mar 23 doi: 10.1097/IOP.0000000000002157. PMID: 35323142
Marcus Gunn Phenomenon.
Falcão I, Almeida F
J Pediatr 2017 Sep;188:302. Epub 2017 Jun 9 doi: 10.1016/j.jpeds.2017.05.031. PMID: 28606373
Marfan's syndrome: an overview.
Yuan SM, Jing H
Sao Paulo Med J 2010 Dec;128(6):360-6. doi: 10.1590/s1516-31802010000600009. PMID: 21308160Free PMC Article
Enterocele: a review.
Holley RL
Obstet Gynecol Surv 1994 Apr;49(4):284-93. PMID: 8202302

Therapy

Cluster Headache: Rapid Evidence Review.
Malu OO, Bailey J, Hawks MK
Am Fam Physician 2022 Jan 1;105(1):24-32. PMID: 35029932
Surgical excision of urethral prolapse.
Hill AJ, Siff L, Vasavada SP, Paraiso MF
Int Urogynecol J 2016 Oct;27(10):1601-3. Epub 2016 Apr 30 doi: 10.1007/s00192-016-3021-9. PMID: 27139717
Botulinum toxin injection for facial wrinkles.
Small R
Am Fam Physician 2014 Aug 1;90(3):168-75. PMID: 25077722
Cluster headache.
Leroux E, Ducros A
Orphanet J Rare Dis 2008 Jul 23;3:20. doi: 10.1186/1750-1172-3-20. PMID: 18651939Free PMC Article
A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements.
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555

Prognosis

Botulinum toxin injection for facial wrinkles.
Small R
Am Fam Physician 2014 Aug 1;90(3):168-75. PMID: 25077722
Cluster headache.
Leroux E, Ducros A
Orphanet J Rare Dis 2008 Jul 23;3:20. doi: 10.1186/1750-1172-3-20. PMID: 18651939Free PMC Article
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Myasthenia gravis.
Juel VC, Massey JM
Orphanet J Rare Dis 2007 Nov 6;2:44. doi: 10.1186/1750-1172-2-44. PMID: 17986328Free PMC Article
Distal myopathy.
Satoyoshi E
Tohoku J Exp Med 1990 Aug;161 Suppl:1-19. doi: 10.1620/tjem.161.supplement_1. PMID: 2082493

Clinical prediction guides

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H
Clin Neurol Neurosurg 2023 Jan;224:107560. Epub 2022 Dec 13 doi: 10.1016/j.clineuro.2022.107560. PMID: 36580738
Clinical and imaging clues to the diagnosis and follow-up of ptosis and ophthalmoparesis.
Keene KR, Kan HE, van der Meeren S, Verbist BM, Tannemaat MR, Beenakker JM, Verschuuren JJGM
J Cachexia Sarcopenia Muscle 2022 Dec;13(6):2820-2834. Epub 2022 Sep 29 doi: 10.1002/jcsm.13089. PMID: 36172973Free PMC Article
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article
Botulinum toxin injection for facial wrinkles.
Small R
Am Fam Physician 2014 Aug 1;90(3):168-75. PMID: 25077722
Post-hysterectomy fallopian tube prolapse.
Piacenza JM, Salsano F
Eur J Obstet Gynecol Reprod Biol 2001 Oct;98(2):253-5. doi: 10.1016/s0301-2115(01)00332-3. PMID: 11574143

Recent systematic reviews

Clinical profile and outcomes in Tolosa-Hunt Syndrome; a systematic review.
Ahmed HS, Shivananda DB, Pulkurthi SR, Dias AF, Sahoo PP
J Clin Neurosci 2024 Nov;129:110858. Epub 2024 Oct 3 doi: 10.1016/j.jocn.2024.110858. PMID: 39366127
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.
Rizzi S, Spagnoli C, Frattini D, Pisani F, Fusco C
Behav Neurol 2022;2022:2210555. Epub 2022 Oct 11 doi: 10.1155/2022/2210555. PMID: 36268467Free PMC Article
Exomphalos with intestinal fistulation: Case series and systematic review for clinical characterization, management and embryopathogenesis.
McNickle L, Visa A, Clarke S, Yardley I, Tan YW
J Pediatr Surg 2022 Apr;57(4):661-669. Epub 2021 Jul 14 doi: 10.1016/j.jpedsurg.2021.06.016. PMID: 34311970
Incidence and Distinct Features of Immune Checkpoint Inhibitor-Related Myositis From Idiopathic Inflammatory Myositis: A Single-Center Experience With Systematic Literature Review and Meta-Analysis.
Hamada N, Maeda A, Takase-Minegishi K, Kirino Y, Sugiyama Y, Namkoong H, Horita N, Yoshimi R, Nakajima H; YCU irAE Working Group
Front Immunol 2021;12:803410. Epub 2021 Dec 6 doi: 10.3389/fimmu.2021.803410. PMID: 34938300Free PMC Article
Hemolytic uremic syndrome: differential diagnosis with the onset of inflammatory bowel diseases.
Bianchi L, Gaiani F, Vincenzi F, Kayali S, Di Mario F, Leandro G, De' Angelis GL, Ruberto C
Acta Biomed 2018 Dec 17;89(9-S):153-157. doi: 10.23750/abm.v89i9-S.7911. PMID: 30561409Free PMC Article

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