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Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

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.

ORPHA:2057

  • Synonym(s):
    • Frydman-Cohen-Karmon syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 210745
  • UMLS: C1859432
  • MeSH: -
  • GARD: 905
  • MedDRA: -

Additional information

Further information on this disease

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