Craniofrontonasal Dysplasia malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Craniofrontonasal Dysplasia:
Orphanet epidemiological data:52
Inheritance: X-linked dominant; Age of onset: Neonatal
Inheritance: x-linked dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Bone diseases
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Craniofrontonasal dysplasia is a rare genetic condition caused by a change (mutation) in the efnb1 gene. main features of this condition include widely spaced eyes (hypertelorism), broad-tipped nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, and/or crossed eyes (strabismus). females affected with this condition generally have more symptoms than affected males. treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition. last updated: 9/23/2015
MalaCards based summary: Craniofrontonasal Dysplasia, also known as craniofrontonasal syndrome, is related to craniofrontonasal syndrome teebi type and hypertelorism, teebi type, and has symptoms including hypertelorism, depressed nasal ridge and abnormality of the fingernails. An important gene associated with Craniofrontonasal Dysplasia is EFNB1 (Ephrin B1), and among its related pathways is Axon guidance. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are skeleton and limbs/digits/tail.
OMIM:50 Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in... (304110) more...
UniProtKB/Swiss-Prot:68 Craniofrontonasal syndrome: X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies.
Wikipedia:69 Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very... more...
Diseases related to Craniofrontonasal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:(show all 11)
Graphical network of diseases related to Craniofrontonasal Dysplasia:
Symptoms by clinical synopsis from OMIM:304110
Clinical features from OMIM:304110
Symptoms:52 (show all 42)
HPO human phenotypes related to Craniofrontonasal Dysplasia:(show all 81)
UMLS symptoms related to Craniofrontonasal Dysplasia:joint laxity, grooving of nail
MalaCards organs/tissues related to Craniofrontonasal Dysplasia:34
Eye, Skin, Bone, Breast
Articles related to Craniofrontonasal Dysplasia:(show all 20)
UniProtKB/Swiss-Prot genetic disease variations for Craniofrontonasal Dysplasia:68 (show all 19)
Clinvar genetic disease variations for Craniofrontonasal Dysplasia:5 (show all 12)
Copy number variations for Craniofrontonasal Dysplasia from CNVD:6
Search GEO for disease gene expression data for Craniofrontonasal Dysplasia.
Biological processes related to Craniofrontonasal Dysplasia according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet