Blepharonasofacial malformation syndrome

Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(41.7%)		 10631920
 A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome.
Stoll C, Terzic J, Fischbach M.
Genet Couns. 1999;10(4):337-43.
Mask-like facies Telecanthus Joint laxity
Craniofacial Abnormalities Eye Abnormalities Females Homo sapiens Infant Intellectual Disability Male Nose Syndrome Waardenburg Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0000298 Mask-like facies Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000430 Underdeveloped nasal alae Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000445 Wide nose Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0000632 Lacrimation abnormality Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001304 Torsion dystonia Very frequent (99-80%)
HP:0001582 Redundant skin Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000499 Abnormal eyelash morphology Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001347 Hyperreflexia Frequent (79-30%)
HP:0005338 Sparse lateral eyebrow Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0008572 External ear malformation Frequent (79-30%)
HP:0100335 Non-midline cleft lip Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000648 Optic atrophy Occasional (29-5%)
HP:0001608 Abnormality of the voice Occasional (29-5%)
HP:0002162 Low posterior hairline Occasional (29-5%)
HP:0009804 Reduced number of teeth 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