Pachydermoperiostosis

General Information (adopted from Orphanet):

Synonyms, Signs: PDP
Touraine-Solente-Gole syndrome
Number of Symptoms 45
OrphanetNr: 2796
OMIM Id: 167100
259100
614441
ICD-10: M89.4
UMLs:
MeSH:
MedDRA: 10051686
Snomed: 88220006

Prevalence, inheritance and age of onset:

Prevalence: 204 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dermis disorder
 -Rare genetic disease
Primary hypertrophic osteoarthropathy
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Unclassified dermis disorder
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
2
 (HPO:0010541) Cutis gyrata of scalp 6 / 7739
3
 (HPO:0001965) Abnormality of the scalp Frequent [Orphanet] 10 / 7739
4
 (HPO:0009553) Abnormality of the hairline Occasional [Orphanet] 30 / 7739
5
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
6
 (HPO:0000508) Ptosis Frequent [Orphanet] occasional [HPO:skoehler] 459 / 7739
7
 (HPO:0100021) Cerebral palsy Occasional [Orphanet] 36 / 7739
8
 (HPO:0000771) Gynecomastia Occasional [Orphanet] 53 / 7739
9
 (HPO:0000845) Growth hormone excess Occasional [Orphanet] 18 / 7739
10
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
11
 (HPO:0100759) Clubbing of fingers 40 / 7739
12
 (HPO:0100760) Clubbing of toes Frequent [Orphanet] 24 / 7739
13
 (HPO:0006465) Periosteal thickening of long tubular bones 3 / 7739
14
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
15
 (HPO:0010622) Neoplasm of the skeletal system Very frequent [Orphanet] 30 / 7739
16
 (HPO:0200055) Small hand Occasional [Orphanet] 71 / 7739
17
 (HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
18
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
19
 (HPO:0010885) Aseptic necrosis Occasional [Orphanet] 24 / 7739
20
 (HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
21
 (HPO:0002754) Osteomyelitis Very frequent [Orphanet] 37 / 7739
22
 (HPO:0002797) Osteolysis Frequent [Orphanet] 68 / 7739
23
 (HPO:0100769) Synovitis Frequent [Orphanet] 86 / 7739
24
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
25
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
26
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
27
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
28
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
29
 (HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
30
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
31
 (HPO:0002592) Gastric ulcer Occasional [Orphanet] 39 / 7739
32
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
33
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
34
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
35
 (HPO:0001051) Seborrheic dermatitis Very frequent [Orphanet] 25 / 7739
36
 (HPO:0001061) Acne Frequent [Orphanet] 33 / 7739
37
 (HPO:0000975) Hyperhidrosis 64 / 7739
38
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
39
 (HPO:0002225) Sparse pubic hair Frequent [Orphanet] 76 / 7739
40
 (HPO:0005561) Abnormality of bone marrow cell morphology Occasional [Orphanet] 11 / 7739
41
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
42
 (HPO:0000969) Edema Frequent [Orphanet] 117 / 7739
43
 (HPO:0100526) Neoplasm of the lung Occasional [Orphanet] 26 / 7739
44
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
45
 (HPO:0030350) Erythematous papule Occasional [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: