Oculomaxillofacial dysostosis
Synonyms: Richieri-Costa-Gorlin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculomaxillofacial dysostosis | Richieri-Costa-Gorlin syndrome |
| fr | Dysostose oculo-maxillo-faciale | Syndrome de Richieri Costa-Gorlin |
| de | Dysostose, okulo-maxillo-faziale | Richieri-Costa-Gorlin-Syndrom |
| es | Disostosis óculo-máxilo-facial | Síndrome de Richieri-Costa-Gorlin |
| it | Disostosi oculo-maxillo-facciale | Sindrome di Richieri Costa-Gorlin |
| nl | Oculomaxillofaciale dysostose | Syndroom van Richieri-Costa-Gorlin |
| pt | Disostose óculo-maxilo-facial | Síndrome Richieri-Costa-Gorlin |
| pl | Dyzostoza oczno-szczękowo-twarzowa | Zespół Richieri, Costa i Gorlina |
| cs | Okulomaxilofaciální dysostóza | Richieri-Costův-Gorlinův syndrom · Richieri-Costa-Gorlinův syndrom |
| uk | Окуло-щелепно-лицевий дизостоз | Синдром Річчієрі-Коста-Горліна |
| zh | 眼-上颌-面骨发育不良 | Richieri-Costa-Gorlin综合征 |
| tr | Okülomaksillofasiyal disostoz | Richieri-Costa-Gorlin sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q75.1 | NTBT | attributed | validated |
| ICD-11 | LD25.3 | NTBT | index | validated |
| MONDO | 0015824 | E | validated | |
| MeSH | C537736 | E | validated | |
| UMLS | C1838348 | E | validated | |
| GARD | 4046 | 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:93453Dysostosis with predominant craniofacial involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 4 cases | Worldwide | Case(s) | Validated | 7856656[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7856656[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000366 | Abnormality of the nose | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0000175 | Cleft palate | |
| HP:0007957 | Corneal opacity | |
| HP:0002006 | Facial cleft | |
| HP:0000161 | Median cleft lip | |
| HP:0004322 | Short stature | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0031095 | Abnormal humerus morphology | |
| HP:0001181 | Adducted thumb | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0001156 | Brachydactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0000347 | Micrognathia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1794
- This record as JSON: /data/d/1794.json