Camptodactyly-joint contractures-facial skeletal defects syndrome
Synonyms: Rozin camptodactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camptodactyly-joint contractures-facial skeletal defects syndrome | Rozin camptodactyly syndrome |
| fr | Syndrome de camptodactylie-contractures articulaires-anomalies osseuses de la face | Syndrome de camptodactylie de Rozin |
| de | Kamptodaktylie-Gelenkkontrakturen-faziale Skelettdefekte-Syndrom | Kamptodaktylie-Syndrom Typ Rozin |
| es | Síndrome de camptodactilia-contracturas articulares-anomalías faciales esqueléticas | Síndrome de Rozin-camptodactilia |
| it | Sindrome da camptodattilia-contratture articolari-anomalie facciali e scheletriche | Sindrome da camptodattilia di Rozin |
| nl | Camptodactylie - gewrichtscontracturen - defecten van faciaal skelet-syndroom | Camptodactylie-syndroom van Rozin |
| pt | Síndrome de camptodactilia-contraturas articulares-defeitos esqueléticos faciais | Síndrome de camptodactilia Rozin |
| pl | Zespół kamptodaktylii-przykurczów stawowych-wad części kostnych twarzy | Zespół Rozina, Hertza i Goodmana · Zespół Rozina - kamptodaktylia |
| cs | Syndrom zahrnující kamptodaktylii, kloubní kontraktury a defekty skeletu obličeje | Rozinové syndrom kamptodaktylie · Rozinové-Hertzové-Goodmanův syndrom · Rozin-Hertz-Goodmanův syndrom |
| uk | Синдром камптодактилії - контрактури суглобів - дефектів лицьового скелета | Синдром камподактилії Розіна |
| zh | 指屈曲-关节挛缩-面部骨骼缺损综合征 | Rozin指弯曲畸形综合征 |
| tr | Kamptodaktili eklem kontraktürleri-yüz iskelet defektleri sendromu | Rozin-Hertz-Goodman sendromu · Rozin-kamptodaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602612 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0011262 | E | validated | |
| MeSH | C535876 | E | validated | |
| UMLS | C2931051 | E | validated | |
| GARD | 216 | 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 (4):
- ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - 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 - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
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 | 4 cases | Worldwide | Case(s) | Validated | 16688750[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16688750[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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002683 | Abnormality of the calvaria | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0100555 | Asymmetric growth | |
| HP:0004422 | Biparietal narrowing | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000324 | Facial asymmetry | |
| HP:0006101 | Finger syndactyly | |
| HP:0000348 | High forehead | |
| HP:0003307 | Hyperlordosis | |
| HP:0001387 | Joint stiffness | |
| HP:0002162 | Low posterior hairline | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000189 | Narrow palate | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0003422 | Vertebral segmentation defect | |
| Frequent (79-30%) | ||
| HP:0001511 | Intrauterine growth retardation | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1323
- This record as JSON: /data/d/1323.json