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15 results

  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... unaffected in people with this condition. Females with craniofrontonasal syndrome typically have more severe signs and symptoms than affected males, who often have hypertelorism and ...
  2. Greig Cephalopolysyndactyly Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1446
    ... Table 4. Genes of Interest in the Differential Diagnosis of Greig Cephalopolysyndactyly Syndrome View in own window Gene(s) Disorder MOI Clinical Features Comment EFNB1 Craniofrontonasal dysplasia (OMIM 304110 ) XL 1 In females: frontonasal ...
  3. Craniofrontonasal syndrome 
    https://medlineplus.gov/.../condition/craniofrontonasal-syndrome
    ... tissues before birth, leading to the signs and symptoms of craniofrontonasal syndrome. EFNB1 Craniofrontonasal syndrome is inherited in an X- ... their sons.Researchers suspect that the signs and symptoms of craniofrontonasal syndrome vary in severity between males and females in ...
  4. EFNB1 gene 
    https://medlineplus.gov/genetics/gene/efnb1
    ... other facial structures leads to the signs and symptoms of craniofrontonasal syndrome. More About This Health Condition EFL3 EFNB1 gene ...
  5. 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_ ...
  6. 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 ... Fryns syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  7. 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 ...
  8. 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 ...
  9. 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 ...
  10. 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 ...
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