Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000327 Hypoplasia of the maxilla Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000496 Abnormality of eye movement Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000561 Absent eyelashes Very frequent (99-80%)
HP:0000574 Thick eyebrow Very frequent (99-80%)
HP:0001092 Absent lacrimal punctum Very frequent (99-80%)
HP:0002553 Highly arched eyebrow Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004422 Biparietal narrowing Very frequent (99-80%)
HP:0000308 Microretrognathia Frequent (79-30%)
HP:0000340 Sloping forehead Frequent (79-30%)
HP:0000358 Posteriorly rotated ears Frequent (79-30%)
HP:0000377 Abnormality of the pinna Frequent (79-30%)
HP:0005180 Tricuspid regurgitation Frequent (79-30%)
HP:0012471 Thick vermilion border Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID