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Familial scaphocephaly syndrome, McGillivray type

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Name:
Familial scaphocephaly syndrome, McGillivray type
Description:
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.
ORPHAcode:
168624
Synonyms:
Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
FGFR2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14