ORPHA:87
Apert syndrome
Synonyms: ACS1 · Acrocephalosyndactyly type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Apert syndrome | ACS1 · Acrocephalosyndactyly type 1 |
| fr | Syndrome d'Apert | ACS1 · Acro-céphalo-syndactylie type 1 |
| de | Apert-Syndrom | ACPS I · Akrozephalosyndaktylie Typ 1 |
| es | Síndrome de Apert | ACS1 · Acrocefalosindactilia tipo 1 |
| it | Sindrome di Apert | ACS 1 · Acrocefalosindattilia, tipo 1 |
| nl | Syndroom van Apert | ACS 1 · Acrocefalosyndactylie type 1 |
| pt | Síndrome Apert | ACS 1 · Acrocefalossindactilia tipo 1 |
| pl | Zespół Aperta | ACS 1 · Akrocefalosyndaktylia typu 1 |
| cs | Apertův syndrom | ACS1 · Akrocefalosyndaktylie, typ 1 |
| uk | Синдром Аперта | Акроцефалосиндактилія типу 1 · ACS1 |
| zh | Apert综合征 | 尖头并指畸形1型 |
| tr | Apert sendromu | ACS1 · Akrosefalosindaktili tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 101200 | E | validated | |
| ICD-10 | Q87.0 | NTBT | inclusion | validated |
| ICD-11 | LD24.G2 | E | specific | validated |
| MONDO | 0007041 | E | validated | |
| UMLS | C0001193 | E | validated | |
| GARD | 5833 | E | validated | |
| MedDRA | 10002943 | 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 (6):
- ORPHA:98650Craniofacial anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:98684Craniostenosis with strabismus
rare genetic diseases; rare ophthalmic disorders - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:138055Pierre Robin syndrome associated with bone disease
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 20301628[PMID]_23593218[PMID]_15282208[PMID] |
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Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Spain | Value and class | Validated | 10666902[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.1 / 100 000 | Spain | Value and class | Validated | 10666902[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.2 / 100 000 | United States | Value and class | Validated | 9375719[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.2 / 100 000 | United States | Value and class | Validated | 9375719[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.47 / 100 000 | Canada | Value and class | Validated | 1303629[PMID]_1602157[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.47 / 100 000 | Canada | Value and class | Validated | 1303629[PMID]_1602157[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.6 / 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
59 annotations · validated 2024-04-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004487 | Acrobrachycephaly | |
| HP:0000244 | Brachyturricephaly | |
| HP:0000337 | Broad forehead | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0001363 | Craniosynostosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0006101 | Finger syndactyly | |
| HP:0012368 | Flat face | |
| HP:0002007 | Frontal bossing | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000520 | Proptosis | |
| HP:0001770 | Toe syndactyly | |
| Frequent (79-30%) | ||
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0011304 | Broad thumb | |
| HP:0004635 | Cervical vertebrae fusion (C5/C6) | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000678 | Dental crowding | |
| HP:0000689 | Dental malocclusion | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000324 | Facial asymmetry | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0000822 | Hypertension | |
| HP:0001249 | Intellectual disability | |
| HP:0000239 | Large fontanelles | |
| HP:0000303 | Mandibular prognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0011380 | Morphological abnormality of the semicircular canal | |
| HP:0000189 | Narrow palate | |
| HP:0000586 | Shallow orbits | |
| HP:0000486 | Strabismus | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0006536 | Airway obstruction | |
| HP:0012803 | Anisometropia | |
| HP:0100702 | Arachnoid cyst | |
| HP:0000193 | Bifid uvula | |
| HP:0002308 | Chiari malformation | |
| HP:0000453 | Choanal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0002676 | Cloverleaf skull | |
| HP:0200020 | Corneal erosion | |
| HP:0004397 | Ectopic anus | |
| HP:0002032 | Esophageal atresia | |
| HP:0000238 | Hydrocephalus | |
| HP:0002983 | Micromelia | |
| HP:0008404 | Nail dystrophy | |
| HP:0000648 | Optic atrophy | |
| HP:0000388 | Otitis media | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30085535[PMID]_31145570[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/87
- This record as JSON: /data/d/87.json