Torg-Winchester syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Winchester syndrome
Number of Symptoms 69
OrphanetNr: 3460
OMIM Id: 259600
277950
ICD-10: Q87.1
UMLs: C1850155
MeSH: C536051
MedDRA:
Snomed: 254151006

Prevalence, inheritance and age of onset:

Prevalence: 12 cases [Orphanet]
Inheritance: autosomal recessive
Autosomal recessive inheritance
[Omim]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multicentric osteolysis-nodulosis-arthropathy spectrum
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000248) Brachycephaly 222 / 7739
2
 (HPO:0000212) Gingival overgrowth 43 / 7739
3
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
4
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
5
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
6
 (HPO:0005441) Sclerotic cranial sutures 1 / 7739
7
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
8
 (HPO:0000316) Hypertelorism 644 / 7739
9
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
10
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
13
 (HPO:0000520) Proptosis 192 / 7739
14
 (HPO:0000414) Bulbous nose 63 / 7739
15
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
16
 (HPO:0000446) Narrow nasal bridge 29 / 7739
17
 (HPO:0008011) Peripheral opacification of the cornea 1 / 7739
18
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
19
 (HPO:0000598) Abnormality of the ear 98 / 7739
20
 (HPO:0001288) Gait disturbance 318 / 7739
21
 (HPO:0008078) Thin metatarsal cortices 2 / 7739
22
 (HPO:0003016) Metaphyseal widening 41 / 7739
23
 (HPO:0002953) Vertebral compression fractures 14 / 7739
24
 (HPO:0008133) Distal tapering of metatarsals 1 / 7739
25
 (HPO:0001171) Split hand Very frequent [Orphanet] 72 / 7739
26
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
27
 (HPO:0006234) Osteolysis involving tarsal bones 3 / 7739
28
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
29
 (HPO:0001783) Broad metatarsal 9 / 7739
30
 (HPO:0001495) Carpal osteolysis 3 / 7739
31
 (HPO:0001473) Metatarsal osteolysis 2 / 7739
32
 (HPO:0000938) Osteopenia 138 / 7739
33
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
34
 (HPO:0000765) Abnormality of the thorax 64 / 7739
35
 (HPO:0003273) Hip contracture 30 / 7739
36
 (HPO:0003179) Protrusio acetabuli 37 / 7739
37
 (HPO:0002751) Kyphoscoliosis 131 / 7739
38
 (HPO:0001850) Abnormality of the tarsal bones Very frequent [Orphanet] 40 / 7739
39
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
40
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
41
 (HPO:0000939) Osteoporosis 129 / 7739
42
 (HPO:0002829) Arthralgia 79 / 7739
43
 (HPO:0001763) Pes planus 176 / 7739
44
 (HPO:0008090) Ankylosis of feet small joints 1 / 7739
45
 (HPO:0006086) Thin metacarpal cortices 2 / 7739
46
 (HPO:0001220) Interphalangeal joint contracture of finger 5 / 7739
47
 (HPO:0001836) Camptodactyly of toe 27 / 7739
48
 (HPO:0001504) Metacarpal osteolysis 3 / 7739
49
 (HPO:0006012) Widened metacarpal shaft 3 / 7739
50
 (HPO:0006252) Interphalangeal joint erosions 2 / 7739
51
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
52
 (HPO:0001239) Wrist flexion contracture 13 / 7739
53
 (HPO:0006466) Ankle contracture 17 / 7739
54
 (HPO:0003320) C1-C2 subluxation 5 / 7739
55
 (HPO:0001761) Pes cavus 225 / 7739
56
 (HPO:0100769) Synovitis Very frequent [Orphanet] 86 / 7739
57
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
58
 (HPO:0001482) Subcutaneous nodule 17 / 7739
59
 (HPO:0001007) Hirsutism 91 / 7739
60
 (HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
61
 (HPO:0001034) Hypermelanotic macule 22 / 7739
62
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
63
 (HPO:0001031) Subcutaneous lipoma Occasional [Orphanet] 112 / 7739
64
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
65
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
66
 (HPO:0003493) Antinuclear antibody positivity 15 / 7739
67
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
68
 (HPO:0003621) Juvenile onset 105 / 7739
69
 (HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: