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GTR Home > Conditions/Phenotypes > Craniometadiaphyseal osteosclerosis with hip dysplasia

Craniometadiaphyseal osteosclerosis with hip dysplasia

Summary

Craniometadiaphyseal osteosclerosis with hip dysplasia (CMDOH) is characterized by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings include 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 (Terhal et al., 2023). For syndromes with overlapping features, see osteopetrosis, autosomal recessive (OPTB1; 259700) and dominant (OPTA1; 607634), and osteopathia with cranial sclerosis (OSCS; 300373). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AXIN, CMDOH, PPP1R49, AXIN1
    Summary: axin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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