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9 results

  1. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/craniofrontonasal-syndrome</url><title >Craniofrontonasal syndrome</title><other_names ><other_ ...
  2. Fryns Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1459
    ... tumors distinguish SGBS1 from Fryns syndrome. 2 EFNB1 Craniofrontonasal syndrome (CFNS) (OMIM 304110 ) XL Rare (can occur in ... posted live 8 January 2007 (ams) Original submission References Literature Cited Alessandri JL, Gordon CT, Jacquemont ML, ...
  3. HYAL2 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK594824
    ... auditory issues Characteristic facial features Skeletal abnormalities EFNB1 Craniofrontonasal syndrome (OMIM 304110 ) XL Hypertelorism, nasal anomalies, orofacial clefts ...
  4. Donnai-Barrow Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1878
    ... nephrocalcinosis, & nephrolithiasis Rickets Congenital or acquired cataracts, & glaucoma Craniofrontonasal syndrome (OMIM 304110 ) EFNB1 XL Congenital diaphragmatic hernia Widely ...
  5. FGFR Craniosynostosis Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1455
    ... terminal transverse limb reduction, metacarpal hypoplasia, syndactyly EFNB1 Craniofrontonasal syndrome (OMIM 304110 ) XL Coronal Asymmetric frontal bossing, low ...
  6. Craniofacial Anomalies | Craniofacial Abnormalities | MedlinePlus 
    https://medlineplus.gov/craniofacialabnormalities.html
    ... Craniofacial microsomia: MedlinePlus Genetics (National Library of Medicine) Craniofrontonasal syndrome: MedlinePlus Genetics (National Library of Medicine) Craniometaphyseal dysplasia: ...
  7. Greig Cephalopolysyndactyly Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1446
    ... Gene(s) Disorder MOI Clinical Features Comment EFNB1 Craniofrontonasal dysplasia (OMIM 304110 ) XL 1 In females: frontonasal dysplasia, ... the thoracic skeleton In males: widely spaced eyes Craniofrontonasal dysplasia facial features in females are similar to those ...
  8. FREM1 Autosomal Recessive Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1728
    ... bifidum 2 Absence of omphalocele & anorectal abnormalities EFNB1 Craniofrontonasal dysplasia (OMIM 304110 ) XL In females: 3 Widely spaced ... the frontal bone detected on skull radiographs. 3. Craniofrontonasal dysplasia shows greater severity in heterozygous females than in ...
  9. MID1-Related Opitz G/BBB Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1327
    ... Feeding problems Joint hyperlaxity Short stature Hypotonia EFNB1 Craniofrontonasal dysplasia (OMIM 304110 ) XL Facial dysmorphism Cleft lip/palate ... posted live 30 June 2004 (gm) Original submission References Literature Cited Baldini R, Mascaro M, Meroni G. ...