Craniofrontonasal dysplasia-Poland anomaly syndrome

Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.



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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: 26

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000445 Wide nose Very frequent (99-80%)
HP:0000455 Broad nasal tip Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0004112 Midline nasal groove Very frequent (99-80%)
HP:0009116 Aplasia/Hypoplasia involving bones of the skull Very frequent (99-80%)
HP:0000136 Bifid uterus Frequent (79-30%)
HP:0000154 Wide mouth Frequent (79-30%)
HP:0000200 Short lingual frenulum Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000465 Webbed neck Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0001159 Syndactyly Frequent (79-30%)
HP:0001231 Abnormal fingernail morphology Frequent (79-30%)
HP:0001357 Plagiocephaly Frequent (79-30%)
HP:0001464 Aplasia/Hypoplasia involving the shoulder musculature Frequent (79-30%)
HP:0001540 Diastasis recti Frequent (79-30%)
HP:0002162 Low posterior hairline Frequent (79-30%)
HP:0002558 Supernumerary nipple Frequent (79-30%)
HP:0006008 Unilateral brachydactyly Frequent (79-30%)
HP:0006709 Aplasia/Hypoplasia of the nipples Frequent (79-30%)
HP:0009930 Asymmetry of the nares Frequent (79-30%)
HP:0011959 Unilateral hypoplasia of pectoralis major muscle Frequent (79-30%)
HP:0012243 Abnormal reproductive system morphology Frequent (79-30%)
HP:0030867 Vertical orbital dystopia Frequent (79-30%)
HP:0045075 Sparse eyebrow Frequent (79-30%)


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