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Congenital bilateral ptosis

MedGen UID:
332165
•Concept ID:
C1836264
•
Congenital Abnormality; Finding
Synonyms: Ptosis, bilateral congenital; Ptosis, congenital bilateral
 
HPO: HP:0007911

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital bilateral ptosis

Conditions with this feature

Mandibulofacial dysostosis with ptosis, autosomal dominant
MedGen UID:
331276
•Concept ID:
C1842349
•
Disease or Syndrome
See: Condition Record
Fibrosis of extraocular muscles, congenital, 3c
MedGen UID:
412956
•Concept ID:
C2750404
•
Disease or Syndrome
See: Condition Record
Fibrosis of extraocular muscles, congenital, 3c
Mandibulofacial dysostosis with ptosis, autosomal dominant

Professional guidelines

PubMed

Genetic counseling in optometry: a case study of congenital bilateral ptosis.
Fatt H, Grisham JD
Am J Optom Physiol Opt 1981 Apr;58(4):342-6. PMID: 7282860

Recent clinical studies

Etiology

A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.
Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC
Arch Ophthalmol 2000 Aug;118(8):1090-7. doi: 10.1001/archopht.118.8.1090. PMID: 10922204

Clinical prediction guides

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family.
Venkatesh CP, Pillai VS, Raghunath A, Prakash VS, Vathsala R, Pericak-Vance MA, Kumar A
Mol Vis 2002 Aug 14;8:294-7. PMID: 12181522
A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12.
Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC
Arch Ophthalmol 2000 Aug;118(8):1090-7. doi: 10.1001/archopht.118.8.1090. PMID: 10922204

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