blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
MONDO:0008875
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized 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.
Outbreak surveillance
Global reported eventsExplore recent public health notices potentially related to blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome. Results are keyword matches, not yet verified disease-to-outbreak relationships.
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Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is a very rare genetic and congenital disorder which is characterized by blepharophimosis, ptosis, V-esotropia, foot syndactyly, extra-ocular and frontal muscles weakness, low height/short stature, prognathism, and synophrys. Only six cases from three consanguineous families across the world have been reported in medical literature. This disorder follows an autosomal recessive inheritance pattern. Less commonly, anosmia, moderate intellectual disability, hypertelorism, and increased thickness of lower lips and eyebrows can also appear as symptoms of the syndrome
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.