Progressive pseudorheumatoid arthropathy of childhood

General Information (adopted from Orphanet):

Synonyms, Signs: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY
PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
SEDT-PA
PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD
PPD
PPAC
Spondyloepiphyseal dysplasia tarda - progressive arthropathy
Number of Symptoms 40
OrphanetNr: 1159
OMIM Id: 208230
ICD-10: Q77.7
UMLs:
MeSH: C535387
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
2
 (HPO:0002515) Waddling gait 56 / 7739
3
 (HPO:0002355) Difficulty walking 61 / 7739
4
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
5
 (HPO:0010580) Enlarged epiphyses 14 / 7739
6
 (HPO:0000939) Osteoporosis 129 / 7739
7
 (HPO:0001760) Abnormality of the foot 96 / 7739
8
 (HPO:0100490) Camptodactyly of finger 212 / 7739
9
 (HPO:0003040) Arthropathy 19 / 7739
10
 (HPO:0003071) Flattened epiphysis 14 / 7739
11
 (HPO:0003371) Enlargement of the proximal femoral epiphysis 2 / 7739
12
 (HPO:0004637) Decreased cervical spine mobility 1 / 7739
13
 (HPO:0002812) Coxa vara 58 / 7739
14
 (HPO:0002815) Abnormality of the knee Frequent [Orphanet] 19 / 7739
15
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
16
 (HPO:0001155) Abnormality of the hand Frequent [Orphanet] 54 / 7739
17
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
18
 (HPO:0000926) Platyspondyly 150 / 7739
19
 (HPO:0001386) Joint swelling 7 / 7739
20
 (HPO:0006163) Enlarged metacarpophalangeal joints 1 / 7739
21
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
22
 (HPO:0002751) Kyphoscoliosis 131 / 7739
23
 (HPO:0003016) Metaphyseal widening 41 / 7739
24
 (HPO:0004576) Sclerotic vertebral endplates 3 / 7739
25
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
26
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
27
 (HPO:0002970) Genu varum 60 / 7739
28
 (HPO:0006247) Enlarged interphalangeal joints 2 / 7739
29
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
30
 (HPO:0001324) Muscle weakness 859 / 7739
31
 (OMIM) Joint space narrowing 1 / 7739
32
 (OMIM) Narrow joint spaces 2 / 7739
33
 (OMIM) Easily fatigued 1 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
35
 (OMIM) Anterior end-plate erosions 1 / 7739
36
 (OMIM) Periarticular osteoporosis 1 / 7739
37
 (OMIM) Normal sedimentation rate 2 / 7739
38
 (OMIM) Acetabular irregularity 1 / 7739
39
 (MedDRA:10048574) Rheumatoid factor negative 2 / 7739
40
 (OMIM) Flattened, enlarged epiphyses 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Spranger et al. (1983) described an arthropathy of childhood beginning at about age 3 years with progressive joint stiffness that first affects the hips. Morning stiffness and decreased mobility of the cervical spine suggest rheumatoid arthritis. Swelling of ...
Molecular genetics OMIM Using a positional candidate approach, Hurvitz et al. (1999) examined the WISP3 gene, which maps to the same region of 6q, and identified 9 different WISP3 mutations (603400.0001-603400.0009) in unrelated affected individuals, indicating that the gene is essential ...
Population genetics OMIM Wynne-Davies et al. (1982) estimated a frequency of 1 per million in the U.K., but the disorder is likely to be higher in the Middle East and Gulf states (Teebi and Al-Awadi, 1986).