Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Synonyms: Ray-Peterson-Scott syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pelvic dysplasia-arthrogryposis of lower limbs syndrome | Ray-Peterson-Scott syndrome |
| fr | Syndrome de dysplasie du pelvis-pseudoarthrogrypose | Syndrome de Ray-Peterson-Scott |
| de | Pelvis Dysplasie - Pseudoarthrogrypose | Pelvisdysplasie - Arthrogrypose der unteren Extremitäten · Ray-Peterson-Scott-Syndrom |
| es | Síndrome de displasia pélvica-pseudoartrogriposis de las extremidades inferiores | Síndrome de Ray-Peterson-Scott |
| it | Displasia pelvica - artrogriposi degli arti inferiori | |
| nl | Bekkendysplasie - artrogrypose van onderste ledematen-syndroom | Syndroom van Ray-Peterson-Scott |
| pt | Síndrome de displasia pélvica-artrogripose dos membros inferiores | Síndrome Ray-Peterson-Scott |
| pl | Dysplazja miednicy - artrogrypoza kończyn dolnych | Zespół Ray'a, Petersona i Scotta |
| cs | Syndrom zahrnující pánevní dysplázii a artrogrypózu dolních končetin | Rayové-Petersonův-Scottův syndrom · Ray-Peterson-Scottův syndrom |
| uk | Синдром тазової дисплазії-артрогрипозу нижніх кінцівок | Синдром Рея-Пітерсона-Скотта |
| zh | 骨盆发育不良-下肢关节挛缩综合征 | Ray-Peterson-Scott综合征 |
| tr | Pelvik displazi-artrogripozisi alt ekstremite sendromu | Ray-Peterson-Scott sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602484 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0011235 | E | validated | |
| MeSH | C535292 | E | validated | |
| UMLS | C2930869 | E | validated | |
| GARD | 4269 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 9489787[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9489787[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005280 | Depressed nasal bridge | |
| HP:0001288 | Gait disturbance | |
| HP:0008839 | Hypoplastic pelvis | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0003100 | Slender long bone | |
| Frequent (79-30%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0002827 | Hip dislocation | |
| HP:0010767 | Sacrococcygeal pilonidal abnormality | |
| HP:0003298 | Spina bifida occulta | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2840
- This record as JSON: /data/d/2840.json