Congenital ptosis

Congenital ptosis is characterized by superior eyelid drop present at birth.



Input patient's signs and symptoms


Narrow down the case reports



Total: 70 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
20
(17.5%)
25954644
Inverse Bell's Phenomenon: Rare Ophthalmic Finding Following Ptosis Surgery.
Shitole S, Jakkal T, Khaire B.
J Clin Diagn Res. 2015;9(3):ND01-2.
Ptosis Scarring
20
(17.5%)
25945032
(4407742)
Infected ptosis surgery - a rare complication from a multidrug-resistant organism.
Jan-Bond C, Norazah AR, Sree-Kumar P, Zunaina E, Fazilawati Q.
Clin Ophthalmol. 2015;9:721-4.
Ptosis Scarring
20
(17.5%)
8507616
[Progressive external ophthalmoplegia and distal myopathy].
Damian C.
Oftalmologia. 1993;37(1):65-7.
External ophthalmoplegia Myopathy
Blepharoptosis Homo sapiens Male Middle Aged Muscular Dystrophy
20
(17.5%)
901263
[Myotubular or centronuclear myopathy; report of a case and review of the literature].
Pereira de Sousa R, Miranda D, Perpetuo FO, Campos GB, Vuletin JC.
Arq Neuropsiquiatr. 1977;35(3):247-59.
Myopathy
Biopsy Blepharoptosis Differential Diagnosis Electromyography Electron Microscopy Homo sapiens Male Muscle Tissue Muscular Dystrophy Neuromuscular Diseases
25
(4.0%)
30200099
(6133583)
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.
Pavone P, Cho SY, Pratico AD, Falsaperla R, Ruggieri M, Jin DK.
Medicine (Baltimore). 2018;97(36):e12124.
Ptosis
Blepharoptosis Child Child, Preschool Differential Diagnosis Females Homo sapiens Male
25
(4.0%)
29380764
(5819101)
Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.
Palayil I, Priya SG, Sivan NVS, Madhivanan N, Venkatachalam PS, Jagadeesan M.
Indian J Ophthalmol. 2018;66(2):229-232.
Glaucoma
PAX6
c|DUP|216-19|G| g|DUP|31801757|G|
Adult Aniridia Child DNA DNA Mutational Analysis Family Females Follow-Up Studies Genotype Homo sapiens India Male PAX6 Transcription Factor Phenotype
25
(4.0%)
28540016
(5423378)
Congenital Double Elevator Palsy with Sensory Exotropia: A Unique Surgical Management.
Nagpal RC, Raj A, Maitreya A.
J Ophthalmic Vis Res. 2017;12(2):222-224.
Exotropia
25
(4.0%)
28293536
(5343208)
Early onset bilateral juvenile myasthenia gravis masquerading as simple congenital ptosis.
Alam MS, Devi Nivean P.
GMS Ophthalmol Cases. 2017;7:Doc07.
Ptosis
25
(4.0%)
28154659
(5267910)
Reckless formalin injection in the eyelid instead of local anesthetic: case report.
Masmoudi T, Mahjoub M, Chkirbene Y, Jedidi M.
Pan Afr Med J. 2016;24:304.
Cataract
Blepharoptosis Child, Preschool Females Homo sapiens Local Anesthetics Medication Error Tunisia
25
(4.0%)
27608283
Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases.
Pearce FC, McNab AA, Hardy TG.
Ophthalmic Plast Reconstr Surg. 2017;33(5):325-328.
Ptosis
CES1
Blepharoptosis Child Congenital Heart Defects Eye Movements Females Homo sapiens Jaw Abnormalities Male Reflex, Abnormal Syndrome Visual Acuity Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 45

HPO ID Term # of case reports
HP:0000508 Ptosis 10
HP:0000526 Aniridia 5
HP:0000581 Blepharophimosis 4
HP:0000518 Cataract 3
HP:0000565 Esotropia 2
HP:0000577 Exotropia 2
HP:0000646 Amblyopia 2
HP:0003198 Myopathy 2
HP:0003470 Paralysis 2
HP:0000023 Inguinal hernia 1
HP:0000086 Ectopic kidney 1
HP:0000347 Micrognathia 1
HP:0000482 Microcornea 1
HP:0000486 Strabismus 1
HP:0000501 Glaucoma 1
HP:0000506 Telecanthus 1
HP:0000567 Chorioretinal coloboma 1
HP:0000568 Microphthalmia 1
HP:0000639 Nystagmus 1
HP:0000656 Ectropion 1
HP:0000821 Hypothyroidism 1
HP:0001137 Alternating esotropia 1
HP:0001159 Syndactyly 1
HP:0001324 Muscle weakness 1
HP:0001488 Bilateral ptosis 1
HP:0001513 Obesity 1
HP:0001537 Umbilical hernia 1
HP:0001629 Ventricular septal defect 1
HP:0001822 Hallux valgus 1
HP:0002047 Malignant hyperthermia 1
HP:0002277 Horner syndrome 1
HP:0002373 Febrile seizures 1
HP:0002650 Scoliosis 1
HP:0004322 Short stature 1
HP:0007687 Unilateral ptosis 1
HP:0009381 Short finger 1
HP:0009926 Epiphora 1
HP:0020041 Double elevator palsy 1
HP:0025514 Morning glory anomaly 1
HP:0030011 Imperforate hymen 1
HP:0031721 Sensory exotropia 1
HP:0031745 Superior rectus muscle overaction 1
HP:0032252 Granuloma 1
HP:0100658 Cellulitis 1
HP:0500074 Dissociated vertical deviation 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
COL25A1 collagen type XXV alpha 1 chain 84570
ZFHX4 zinc finger homeobox 4 79776