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Blepharophimosis - ptosis - esotropia - syndactyly - short stature

Orpha number ORPHA2057
Synonym(s) Frydman-Cohen-Karmon syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS
  • C1859432
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.


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