Congenital ptosis

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



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Narrow down the case reports



Total: 70 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
25
(4.0%)
6633110
Congenital bilateral recurrent nerve paralysis and ptosis: a new syndrome?
Tucker HM.
Laryngoscope. 1983;93(11 Pt 1):1405-7.
Ptosis
Blepharoptosis Females Homo sapiens Infant Male Recurrent Laryngeal Nerve Syndrome Vocal Cord Paralysis
25
(4.0%)
3746596
Unilateral blepharoptosis with synkinetic movements of the eyelids on horizontal gaze.
Rice CD, Weaver RG, Benjamin E, Troost BT.
J Pediatr Ophthalmol Strabismus. 1986;23(4):201-5.
Alternating esotropia
Blepharoptosis Differential Diagnosis Duane Retraction Syndrome Females Homo sapiens Movement Saccades
25
(4.0%)
3703524
The association of congenital ptosis and congenital heart disease.
Larned DC, Flanagan JC, Nelson LE, Harley RD, Wilson TW.
Ophthalmology. 1986;93(4):492-4.
Ptosis
Blepharoptosis Child Child, Preschool Congenital Heart Defects Females Homo sapiens Infant Male
25
(4.0%)
3358595
Aniridia with congenital ptosis and glaucoma: a family study.
Cohen SM, Nelson LB.
Ann Ophthalmol. 1988;20(2):53-7.
Microcornea
Adult Blepharoptosis Child, Preschool Cornea Corneal Diseases Corneal Opacity Females Glaucoma Homo sapiens Male Middle Aged
25
(4.0%)
3248178
Congenital aponeurotic ptosis.
Martin PA, Rogers PA.
Aust N Z J Ophthalmol. 1988;16(4):291-4.
Ptosis
Blepharoptosis Child Homo sapiens Male
25
(4.0%)
2330205
Lacrimal gland prolapse in craniosynostosis syndromes and poor function congenital ptosis.
Jordan DR, Germer BA, Anderson RL, Morales L.
Ophthalmic Surg. 1990;21(2):97-101.
Ptosis
Blepharoptosis Child Craniosynostosis Homo sapiens Lacrimal Apparatus Diseases Syndrome
25
(4.0%)
1818234
Unilateral congenital ptosis due to plexiform neurofibroma, causing refraction error and secondary amblyopia.
Avisar R, Leshem Y, Savir H.
Metab Pediatr Syst Ophthalmol (1985). 1991;14(3-4):62-3.
Astigmatism
Amblyopia Astigmatism Blepharoptosis Child Eyelid Neoplasms Homo sapiens Male Neoplasms, Second Primary Visual Acuity
25
(4.0%)
931286
Surgical repair of extreme bilateral ptosis by modified anterior approach.
Markovits AS.
Ann Ophthalmol. 1977;9(11):1455-8.
Ptosis
Blepharoptosis Homo sapiens Male Methods
25
(4.0%)
542251
Aponeurotic defects in congenital ptosis.
Anderson RL, Gordy DD.
Ophthalmology. 1979;86(8):1493-500.
Ptosis
Blepharoptosis Child Child, Preschool Facial Muscles Females Homo sapiens Infant Infant, Newborn Male
25
(4.0%)
375893
Aponeurotic ptosis surgery.
Anderson RL, Dixon RS.
Arch Ophthalmol. 1979;97(6):1123-8.
Ptosis
Blepharoptosis Females Follow-Up Studies Homo sapiens Methods Middle Aged Suture Techniques
        

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