Dislocation of the hip-dysmorphism syndrome
Synonyms: Collins-Pope syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dislocation of the hip-dysmorphism syndrome | Collins-Pope syndrome |
| fr | Syndrome de luxation de la hanche-dysmorphie | Syndrome de Collins-Pope |
| de | Hüftdislokation-Dysmorphie-Syndrom | Collins-Pope-Syndrom |
| es | Síndrome de luxación de cadera-dismorfia | Síndrome de Collins-Pope |
| it | Lussazione dell'anca - dismorfismi | Sindrome di Collins-Pope |
| nl | Heupluxatie - dysmorfie-syndroom | Syndroom van Collins-Pope |
| pt | Síndrome de luxação da anca-dismorfia | Síndrome Collins-Pope |
| pl | Zwichnięcie stawu biodrowego - dysmorfizm | Zespół Collinsa i Pope |
| cs | Syndrom zahrnující dislokaci kyčelního kloubu a dysmorfismus | Collinsové-Popeho syndrom · Collins-Popeho syndrom |
| uk | Синдром вивиху тазостегнового суглоба- дисморфізму | Синдром Коллінза-Поупа |
| zh | 髋关节脱臼-畸形综合征 | Collins-Pope综合征 |
| tr | Kalça çıkığı-dismorfizm sendromu | Collins-Pope sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601450 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0011081 | E | validated | |
| UMLS | C4706570 | E | validated | |
| GARD | 1428 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRIM33 | Disease-causing germline mutation(s) in | Assessed | HGNC:16290 | ENSG00000197323 | 605769 | 1p13.2 | tripartite motif containing 33 | 39054052[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 8574416[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8574416[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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0004097 | Deviation of finger | |
| HP:0000286 | Epicanthus | |
| HP:0000364 | Hearing abnormality | |
| HP:0000316 | Hypertelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0000272 | Malar flattening | |
| HP:0000160 | Narrow mouth | |
| HP:0010759 | Premaxillary Prominence | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0011328 | Abnormality of fontanelles | |
| HP:0002815 | Abnormality of the knee | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0000023 | Inguinal hernia | |
| HP:0001643 | Patent ductus arteriosus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2412
- This record as JSON: /data/d/2412.json