Warning: The NCBI web site requires JavaScript to function. more...

MedGen

National Center for Biotechnology Information

Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Scaphocephaly and axenfeld-rieger anomaly

MedGen UID:: 358016
•Concept ID:: C1867564
•: Finding

Synonym:	SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY

OMIM®:	176943

Recent clinical studies

Prognosis

Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.

McCann E, Kaye SB, Newman W, Norbury G, Black GC, Ellis IH
Am J Med Genet A 2005 Oct 15;138A(3):278-81. doi: 10.1002/ajmg.a.30944. PMID: 16158432

Supplemental Content

Table of contents

Clinical resources

ClinicalTrials.gov

Consumer resources

MedlinePlus

Reviews

Related information

ClinVar
Related medical variations
OMIM
Related records in OMIM
PubMed (OMIM)
Related literature resources in PubMed

Recent activity

Clear Turn Off Turn On

Scaphocephaly and axenfeld-rieger anomaly
Scaphocephaly and axenfeld-rieger anomaly

MedGen
C1867564[conceptid] (1)
MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...