Isolated brachycephaly

Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.



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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: 11

HPO ID Term Frequency
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0002516 Increased intracranial pressure Frequent (79-30%)
HP:0009891 Underdeveloped supraorbital ridges Frequent (79-30%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0001156 Brachydactyly Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0009701 Metacarpal synostosis Occasional (29-5%)
HP:0011800 Midface retrusion Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
FGFR3 fibroblast growth factor receptor 3 2261
ZIC1 Zic family member 1 7545
TCF12 transcription factor 12 6938
TWIST1 twist family bHLH transcription factor 1 7291