Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome




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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000219 Thin upper lip vermilion Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000324 Facial asymmetry Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000445 Wide nose Frequent (79-30%)
HP:0000456 Bifid nasal tip Frequent (79-30%)
HP:0001155 Abnormality of the hand Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0002714 Downturned corners of mouth Frequent (79-30%)
HP:0002817 Abnormality of the upper limb Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0007874 Almond-shaped palpebral fissure Frequent (79-30%)
HP:0010939 Abnormality of the nasal bone Frequent (79-30%)
HP:0000453 Choanal atresia Occasional (29-5%)
HP:0001274 Agenesis of corpus callosum Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001763 Pes planus Occasional (29-5%)
HP:0007330 Frontal encephalocele Occasional (29-5%)
HP:0008115 Clinodactyly of the 3rd toe Occasional (29-5%)
HP:0012165 Oligodactyly Occasional (29-5%)
HP:0001249 Intellectual disability Excluded (0%)


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