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Cranioosteoarthropathy(COA)

MedGen UID:
394824
•Concept ID:
C2678439
•
Disease or Syndrome
Synonyms: COA; Cranio-osteoarthropathy
SNOMED CT: Cranioosteoarthropathy (720753002); Cranio-osteoarthropathy (720753002); Currarino disease (720753002); Currarino idiopathic osteoarthropathy (720753002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015466
OMIM®: 259100; 601688
Orphanet: ORPHA1525

Definition

A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait. [from SNOMEDCT_US]

Professional guidelines

PubMed

Primary hypertrophic osteoarthropathy: genetics, clinical features and management.
Lu Q, Xu Y, Zhang Z, Li S, Zhang Z
Front Endocrinol (Lausanne) 2023;14:1235040. Epub 2023 Aug 29 doi: 10.3389/fendo.2023.1235040. PMID: 37705574Free PMC Article
Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist.
Limenis E, Stimec J, Kannu P, Laxer RM
Pediatr Rheumatol Online J 2021 Jul 14;19(1):113. doi: 10.1186/s12969-021-00596-0. PMID: 34261502Free PMC Article
Diagnosis and Management of a Patient With Primary Hypertrophic Osteoarthropathy With SCLO2A1 Pathogenic Variants in Vietnam.
Tran TH, Luu BT, Pham AD, Luong LH, Nguyen LTN, Nguyen BN, Van Nguyen H, Bui TH, Ta VT, Van Tran K
J Clin Rheumatol 2021 Dec 1;27(8S):S739-S740. doi: 10.1097/RHU.0000000000001524. PMID: 32833909

Recent clinical studies

Diagnosis

Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy.
Chen X, Zou CC, Dong GP, Liang L, Zhao ZY
Ir J Med Sci 2012 Jun;181(2):257-61. Epub 2009 May 9 doi: 10.1007/s11845-009-0346-0. PMID: 19430868
Idiopathic cranio-osteoarthropathy.
Kabra M, Kabra SK, Ghosh M, Gupta AK, Menon PS
Indian Pediatr 2000 Jun;37(6):659-62. PMID: 10869149

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