Cranio-osteoarthropathy

General Information (adopted from Orphanet):

Synonyms, Signs: CIO, INCLUDED
CURRARINO IDIOPATHIC OSTEOARTHROPATHY, INCLUDED
PDP, AUTOSOMAL RECESSIVE
COA, INCLUDED
PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE
PHO, AUTOSOMAL RECESSIVE
FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD, INCLUDED
TOURAINE-SOLENTE-GOLE SYNDROME CRANIOOSTEOARTHROPATHY, INCLUDED
PHOAR1
Currarino disease
Reginato-Schiapachasse syndrome
Currarino idiopathic osteoarthropathy
Number of Symptoms 53
OrphanetNr: 1525
OMIM Id: 259100
ICD-10: M89.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary hypertrophic osteoarthropathy
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000280) Coarse facial features 189 / 7739
2
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0002684) Thickened calvaria 32 / 7739
5
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
6
 (HPO:0002645) Wormian bones 65 / 7739
7
 (HPO:0000508) Ptosis 459 / 7739
8
 (HPO:0000938) Osteopenia 138 / 7739
9
 (HPO:0000939) Osteoporosis 129 / 7739
10
 (HPO:0009466) Radial deviation of finger Occasional [Orphanet] 101 / 7739
11
 (HPO:0010622) Neoplasm of the skeletal system Very frequent [Orphanet] 30 / 7739
12
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
13
 (HPO:0001376) Limitation of joint mobility 27 / 7739
14
 (HPO:0002815) Abnormality of the knee Frequent [Orphanet] 19 / 7739
15
 (HPO:0002829) Arthralgia 79 / 7739
16
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
17
 (HPO:0000767) Pectus excavatum 244 / 7739
18
 (HPO:0000890) Long clavicles 13 / 7739
19
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
20
 (HPO:0001369) Arthritis 44 / 7739
21
 (HPO:0009771) Osteolytic defects of the phalanges of the hand 17 / 7739
22
 (HPO:0100760) Clubbing of toes Frequent [Orphanet] 24 / 7739
23
 (HPO:0001217) Clubbing 39 / 7739
24
 (HPO:0003040) Arthropathy 19 / 7739
25
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
26
 (HPO:0000972) Palmoplantar hyperkeratosis 41 / 7739
27
 (HPO:0002992) Abnormality of the tibia Frequent [Orphanet] 51 / 7739
28
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
29
 (HPO:0001519) Disproportionate tall stature 39 / 7739
30
 (HPO:0000976) Eczematoid dermatitis 22 / 7739
31
 (HPO:0000964) Eczema Occasional [Orphanet] 81 / 7739
32
 (HPO:0001051) Seborrheic dermatitis 25 / 7739
33
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
34
 (HPO:0001582) Redundant skin 51 / 7739
35
 (HPO:0000975) Hyperhidrosis 64 / 7739
36
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
37
 (OMIM) Subperiosteal ossification 1 / 7739
38
 (OMIM) Delayed closure of the fontanel 2 / 7739
39
 (OMIM) Swollen joints 1 / 7739
40
 (OMIM) Periosteal bone formation 1 / 7739
41
 (MedDRA:10072719) Eyelid thickening 1 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (OMIM) Enlargement of the feet 1 / 7739
44
 (OMIM) Prominent facial folds 1 / 7739
45
 (OMIM) Thickened, furrowed skin 1 / 7739
46
 (OMIM) Furrowing of the forehead 1 / 7739
47
 (HPO:0003577) Congenital onset 133 / 7739
48
 (OMIM) Increased urinary prostaglandin E2 1 / 7739
49
 (OMIM) Expanded diaphyses 1 / 7739
50
 (OMIM) Turtle-backed nails 1 / 7739
51
 (MedDRA:10016825) Flushing 2 / 7739
52
 (OMIM) Expanded metaphyses 1 / 7739
53
 (OMIM) Enlargement of the hands 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osterarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder ...
Clinical Description OMIM Friedreich (1868) first described pachydermoperiostosis in 2 brothers, Wilhelm and Carl Hagner, both of whom had had onset in their teens. They had 4 unaffected sibs.

Vogl and Goldfischer (1962) described the clinical features of pachydermoperiostosis ...
Genotype-Phenotype Correlations OMIM Seifert et al. (2012) observed that in patients with homozygous mutations in the SLCO2A1 gene, manifestations of PHO emerged later than in patients with HPGD mutations, beginning with clubbing of distal phalanges during puberty and pachydermia shortly after ...
Molecular genetics OMIM Uppal et al. (2008) identified 2 different homozygous truncating mutations in the HPGD gene (601688.0002, 601688.0003) in affected members of 2 unrelated families with autosomal recessive primary hypertrophic osteoarthropathy. One of the families had been reported by Latos-Bielenska ...