Pelvic dysplasia - arthrogryposis of lower limbs

General Information (adopted from Orphanet):

Synonyms, Signs: Ray-Peterson-Scott syndrome
Number of Symptoms 11
OrphanetNr: 2840
OMIM Id: 602484
ICD-10:
UMLs: C1865294
C2930869
MeSH: C535292
C535548
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Dysostosis with predominant vertebral and costal involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
2
 (HPO:0000592) Blue sclerae Frequent [Orphanet] 85 / 7739
3
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
4
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
5
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
6
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
7
 (HPO:0003298) Spina bifida occulta Frequent [Orphanet] 67 / 7739
8
 (HPO:0003100) Slender long bone Very frequent [Orphanet] 45 / 7739
9
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
10
 (HPO:0200040) Epidermoid cyst Frequent [Orphanet] 35 / 7739
11
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: