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GENATLAS PHENOTYPE

last update : 07-11-2023

Symbol	CMDOH
Location	16p13.3
Name	craniometadiaphyseal osteosclerosis with hip dysplasia
Corresponding gene	AXIN1
Main clinical features	macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis; also hip dysplasia, heart malformations, variable developmental delay, and hematologic anomalies including anemia and pancytopenia bone biopsy shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, resulting in coarse trabeculae
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	osteo-articular
Type	disease

Remark(s)