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: 37705574 Free 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: 34261502 Free PMC Article

Secondary hypertrophic osteoarthropathy: new insights on pathogenesis and management.

Nahar I, Al-Shemmeri M, Hussain M
Gulf J Oncolog 2007 Jan;1(1):71-6. PMID: 20084716

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