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Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Synonym(s) Frydman-Cohen-Karmon syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q87.8
  • C1859432
MeSH -
MedDRA -


Disease definition

Blepharophimosis-ptosis-esotropia-syndactyly-short stature 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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