ORPHA:710
Pfeiffer syndrome
Synonyms: ACS5 · Acrocephalosyndactyly type 5
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pfeiffer syndrome | ACS5 · Acrocephalosyndactyly type 5 |
| fr | Syndrome de Pfeiffer | ACS5 · Acro-céphalo-syndactylie type 5 |
| de | Pfeiffer-Syndrom | ACS 5 · Akrozephalosyndaktylie Typ 5 |
| es | Síndrome de Pfeiffer | ACS5 · Acrocefalosindactilia tipo 5 |
| it | Sindrome di Pfeiffer | ACS 5 · Acrocefalosindattilia, tipo 5 |
| nl | Syndroom van Pfeiffer | ACS 5 · Acrocefalosyndactylie type 5 |
| pt | Síndrome Pfeiffer | ACS 5 · Acrocefalossindactilia tipo 5 |
| pl | Zespół Pfeiffera | ACS 5 · Akrocefalosyndaktylia typu 5 |
| cs | Pfeifferův syndrom | ACS5 · Akrocefalosyndaktylie, typ 5 |
| uk | Синдром Пфайфера | Акроцефалосиндактилія 5 типу · ACS5 |
| zh | Pfeiffer综合征 | 尖头并指畸形5型 |
| tr | Pfeiffer sendromu | ACS5 · Akrosefalosindaktili tip 5 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 101600 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD24.G0 | E | specific | validated |
| MONDO | 0007043 | E | validated | |
| MeSH | C538582 | E | validated | |
| UMLS | C0220658 | E | validated | |
| GARD | 7380 | E | validated | |
| MedDRA | 10082289 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98684Craniostenosis with strabismus
rare genetic diseases; rare ophthalmic disorders - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
4
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| FGFR2 | ORPHA:93258Pfeiffer syndrome type 1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 20301628[PMID] |
| FGFR2 | ORPHA:93259Pfeiffer syndrome type 2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 20301628[PMID] |
| FGFR2 | ORPHA:93260Pfeiffer syndrome type 3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 20301628[PMID] |
| FGFR1 | ORPHA:93258Pfeiffer syndrome type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 20301628[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | 16740155[PMID]_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Australia | Value and class | Validated | 34626670[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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011304 | Broad thumb | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006101 | Finger syndactyly | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| HP:0000262 | Turricephaly | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000324 | Facial asymmetry | |
| HP:0012368 | Flat face | |
| HP:0000218 | High palate | |
| HP:0001385 | Hip dysplasia | |
| HP:0003307 | Hyperlordosis | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000194 | Open mouth | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0005048 | Synostosis of carpal bones | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/710
- This record as JSON: /data/d/710.json