Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Cranio-osteoarthropathy

Synonyms

Currarino idiopathic osteoarthropathy

Reginato-Schiapachasse syndrome

Currarino disease

Definitions

Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

ID

http://www.orpha.net/ORDO/Orphanet_1525

alternative_term

Currarino idiopathic osteoarthropathy

Reginato-Schiapachasse syndrome

Currarino disease

definition

Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1525

has_age_of_onset

Childhood

has_inheritance

Autosomal recessive

hasDbXref

ICD-11:FB86.10

OMIM:259100

UMLS:C2678439

ICD-10:M89.4

label

Cranio-osteoarthropathy

notation

ORPHA:1525

part_of

http://www.orpha.net/ORDO/Orphanet_248095

prefixIRI

ORDO:Orphanet_1525

prefLabel

Cranio-osteoarthropathy

present_in

Worldwide AND has_cases/families_value : 30.0 (Case)

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_248095

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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