loading...| Preferred Name |
Craniometaphyseal dysplasia |
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| Synonyms |
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| Definitions |
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_1522 |
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| definition |
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1522 |
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| has_age_of_onset |
Childhood |
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| has_inheritance |
Autosomal recessive Autosomal dominant |
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| hasDbXref |
ICD-10:Q78.8 OMIM:218400 OMIM:123000 UMLS:C0265292 ICD-11:LD24.1Y |
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| label |
Craniometaphyseal dysplasia |
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| notation |
ORPHA:1522 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_183542 |
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| prefixIRI |
ORDO:Orphanet_1522 |
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| prefLabel |
Craniometaphyseal dysplasia |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 160.0 (Case) |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_183542 |
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| subClassOf |