DISEASE: Scaphocephaly, maxillary retrusion, and impaired intellectual development
Entry
H02932 Disease
Name
Scaphocephaly, maxillary retrusion, and impaired intellectual development
Description
Scaphocephaly, maxillary retrusion, and impaired intellectual development is an autosomal dominant craniosynostosis syndrome characterised by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. It has been reported that mutations in FGFR2 cause this syndrome. FGFR2 encodes fibroblast growth factor receptor type 2, and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02932 Scaphocephaly, maxillary retrusion, and impaired intellectual development
