Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

A rare syndrome 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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000565 Esotropia Very frequent (99-80%)
HP:0000574 Thick eyebrow Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0001291 Abnormal cranial nerve morphology Very frequent (99-80%)
HP:0002553 Highly arched eyebrow Very frequent (99-80%)
HP:0004322 Short stature Frequent (79-30%)
HP:0000179 Thick lower lip vermilion Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000458 Anosmia Occasional (29-5%)
HP:0006889 Intellectual disability, borderline Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID