Pierre Robin syndrome-faciodigital anomaly syndrome
historical
Synonyms: Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pierre Robin syndrome-faciodigital anomaly syndrome | Chitayat-Meunier-Hodgkinson syndrome · Pierre Robin sequence-faciodigital anomaly syndrome |
| fr | Syndrome de Pierre Robin-anomalie facio-digitale | Syndrome de Chitayat-Meunier-Hodgkinson · Syndrome de séquence de Pierre Robin-anomalie facio-digitale |
| de | Pierre-Robin-Sequenz-fazio-digitale Anomalien-Syndrom | Chitayat-Meunier-Hodgkinson-Syndrom · Pierre-Robin-Syndrom mit fazio-digitalen Anomalien |
| es | Síndrome de Pierre Robin-anomalía faciodigital | Secuencia de Pierre Robin-anomalía faciodigital · Síndrome de Chitayat-Meunier-Hodgkinson |
| it | Sindrome di Pierre Robin - anomalia faciodigitale | Sequenza di Pierre Robin - anomalia faciodigitale · Sindrome di Chitayat-Meunier-Hodgkinson |
| nl | Syndroom van Pierre Robin - faciodigitale anomalie-syndroom | Pierre Robin sequentie - faciodigitale anomalie-syndroom · Syndroom van Chitayat-Meunier-Hodgkinson |
| pt | Síndrome de anomalia facio-digital-síndrome Pierre-Robin | Síndrome Chitayat-Meunier-Hodgkinson |
| pl | Zespół Pierre'a Robina - anomalia twarzowo-palcowa | Sekwencja Pierre'a Robina - anomalia twarzowo-palcowa · Zespół Chitayata, Meuniera i Hodgkinsona |
| cs | Syndrom zahrnující Pierre Robinův syndrom a faciodigitální anomálii | Syndrom zahrnující Pierre Robinovu sekvenci a faciodigitální anomálie · Chitayatův-Meunierové-Hodgkinsonové syndrom · Chitayat-Meunier-Hodgkinsonové syndrom |
| uk | Синдром Пєра Робена з фаціодігітальними аномаліями | Синдром Чітаята-Муньє-Ходгкінсона · Синдром послідовності Пєра Робена-фаціально-дігітальних аномалій |
| zh | Pierre-Robin综合征-面部手指异常综合征 | Pierre Robin序列征-面指异常综合征 |
| tr | Pierre Robin sendromu-fasiyodijital anomali sendromu | Chitayat-Meunier-Hodgkinson sendromu · Pierre Robin dizisi-fasiyodijital anomali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 311895 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010710 | E | validated | |
| MeSH | C564078 | E | validated | |
| UMLS | C2931064 | E | validated | |
| GARD | 1274 | 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 (1):
- 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 | 2 cases | Worldwide | Case(s) | Validated | 1897570[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1897570[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2888
- This record as JSON: /data/d/2888.json