Familial scaphocephaly syndrome, McGillivray type

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.



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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: 14

HPO ID Term Frequency
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000218 High palate Frequent (79-30%)
HP:0000268 Dolichocephaly Frequent (79-30%)
HP:0001256 Intellectual disability, mild Frequent (79-30%)
HP:0010807 Open bite Frequent (79-30%)
HP:0011800 Midface retrusion Frequent (79-30%)
HP:0000243 Trigonocephaly Occasional (29-5%)
HP:0000303 Mandibular prognathia Occasional (29-5%)
HP:0000582 Upslanted palpebral fissure Occasional (29-5%)
HP:0001770 Toe syndactyly Occasional (29-5%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0010059 Broad hallux phalanx Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
FGFR2 fibroblast growth factor receptor 2 2263