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familial scaphocephaly syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Uniprot Description An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation.
Mondo Term and Equivalent IDs
MONDO:0015704:  familial scaphocephaly syndrome
Orphanet:169163: