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GENATLAS PHENOTYPE

last update : 10/04/2006

Symbol	ANBXL1
Location	10q26.13
Name	Antley-Bixler syndrome 1
Other name(s)	trapezoidocephaly-synostosis syndrome
Corresponding gene	FGFR2
Other symbol(s)	ANBXL, ABS
Main clinical features	craniosynostosis, midface hypoplasia, radiohumeral synostosis, femoral bowing with neonatal femoral fractures, fusion of carpal and tarsal bones, associated in any cases with genital abnormalities especially in females
Genetic determination	autosomal recessive
	autosomal dominant
Related entries	including Antley- Bixler-like syndrome
Function/system disorder	osteo-articular
Type	disease

Gene product

Name	fibroblast growth factor receptor 2 (FGFR2)

Remark(s)