ORPHA:83
Antley-Bixler syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Antley-Bixler syndrome | |
| fr | Syndrome d'Antley-Bixler | |
| de | Antley-Bixler-Syndrom | |
| es | Síndrome de Antley-Bixler | |
| it | Sindrome di Antley-Bixler | |
| nl | Syndroom van Antley-Bixler | |
| pt | Síndrome Antley-Bixler | |
| pl | Zespół Antleya i Bixlera | |
| cs | Antleyho-Bixlerův syndrom | Antley-Bixlerův syndrom |
| uk | Синдром Ентлі-Бікслера | |
| zh | Antley-Bixler综合征 | |
| tr | Antley-Bixler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 207410 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0008803 | E | validated | |
| MeSH | D054882 | E | validated | |
| UMLS | C5234850 | E | validated | |
| GARD | 5826 | E | validated | |
| MedDRA | 10083864 | 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 (3):
- 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:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
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Genes
0 direct · 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| POR | ORPHA:63269Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9208 | ENSG00000127948 | 124015 | 7q11.23 | cytochrome p450 oxidoreductase | 15483095[PMID] |
| FGFR2 | ORPHA:596008Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis | Disease-causing germline mutation(s) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 20301592[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | [EXPERT]_ORPHANET |
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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0001166 | Arachnodactyly | |
| HP:0000248 | Brachycephaly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0003070 | Elbow ankylosis | |
| HP:0002980 | Femoral bowing | |
| HP:0002007 | Frontal bossing | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0001387 | Joint stiffness | |
| HP:0000774 | Narrow chest | |
| HP:0003275 | Narrow pelvis bone | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0012210 | Abnormal renal morphology | |
| HP:0000453 | Choanal atresia | |
| HP:0001363 | Craniosynostosis | |
| HP:0000520 | Proptosis | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0000160 | Narrow mouth | |
| HP:0002757 | Recurrent fractures | |
| HP:0000486 | Strabismus | |
| HP:0001883 | Talipes | |
| HP:0000262 | Turricephaly | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
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/83
- This record as JSON: /data/d/83.json