ORPHA:1784
Acrofrontofacionasal dysostosis
Synonyms: Richieri-Costa-Colletto syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrofrontofacionasal dysostosis | Richieri-Costa-Colletto syndrome |
| fr | Dysostose acrofrontofacionasale | Syndrome de Richieri Costa-Colletto |
| de | Dysostose, akro-fronto-fazio-nasale | Richieri-Costa-Colletto-Syndrom |
| es | Disostosis acro-fronto-facio-nasal | Síndrome de Richieri-Costa-Colletto |
| it | Disostosi acro-fronto-facio-nasale | Sindrome di Richieri Costa-Colletto |
| nl | Acrofrontofacionasale dysostose | Syndroom van Richieri-Costa-Colletto |
| pt | Disostose acro-fronto-facio-nasal | Síndrome Richieri-Costa-Colletto |
| pl | Dyzostoza kończynowo-czołowa-twarzowo-nosowa | Zespół Richieri, Costa i Colletto |
| cs | Akrofrontofacionazální dysostóza | Richieri-Costův-Collettové syndrom · Richieri-Costa-Collettové syndrom |
| uk | Акрофронтофаціоназальний дизостоз | Синдром Річєрі-Коста-Коллетто |
| zh | 肢端-前额-面-鼻骨发育不全 | Richieri-Costa-Colletto综合征 |
| tr | Akrofrontofasiyonazal disostoz | Richieri-Costa-Colletto sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201180 | E | validated | |
| ICD-10 | Q75.1 | NTBT | attributed | validated |
| ICD-11 | LD25.3 | NTBT | index | validated |
| MONDO | 0008715 | E | validated | |
| MeSH | C538186 | E | validated | |
| UMLS | C1860118 | E | validated | |
| GARD | 484 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 22052670[PMID]_18553510[PMID]_2830788[PMID]_2986457[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22052670[PMID]_18553510[PMID]_2830788[PMID]_2986457[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.
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HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0001798 | Anonychia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0000337 | Broad forehead | |
| HP:0000455 | Broad nasal tip | |
| HP:0011304 | Broad thumb | |
| HP:0001088 | Brushfield spots | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000175 | Cleft palate | |
| HP:0004132 | Dimple on nasal tip | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000625 | Eyelid coloboma | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002983 | Micromelia | |
| HP:0011800 | Midface retrusion | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000508 | Ptosis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000232 | Everted lower lip vermilion | |
| Occasional (29-5%) | ||
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000048 | Bifid scrotum | |
| HP:0000047 | Hypospadias | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1784
- This record as JSON: /data/d/1784.json