ORPHA:56305
Atelosteogenesis type III
Synonyms: AO3 · AOIII · Atelosteogenesis type 3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atelosteogenesis type III | AO3 · AOIII · Atelosteogenesis type 3 |
| fr | Atélostéogenèse type III | AO3 · AOIII · Atélostéogenèse type 3 |
| de | Atelosteogenesis Typ III | AO3 · AOIII · Atelosteogenesis Typ 3 |
| es | Atelosteogénesis tipo III | AO3 · Atelosteogénesis tipo 3 |
| it | Atelosteogenesi, tipo III | AO3 · AOIII |
| nl | Atelosteogenese type III | AO3 · AOIII |
| pt | Atelosteogénese III | |
| pl | Atelosteogeneza typu III | AO3 · AOIII |
| cs | Atelosteogeneze, typ III | AO3 · AOIII · Atelosteogeneze, typ 3 |
| uk | Ателостеогенез, тип III | AO3 · AOIII · Тип ателостеогенезу 3 |
| zh | 成骨不全III型 | 骨发育不全症3型 |
| tr | Atelosteogenez tip III | AO3 · AOIII · Atelosteogenez tip 3 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108721 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | index | validated |
| MONDO | 0007168 | E | validated | |
| MeSH | C579928 | E | validated | |
| UMLS | C3668942 | E | validated | |
| GARD | 10608 | 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 (5):
- ORPHA:93425Filamin-related bone disorder
rare genetic diseases - 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:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNB | Disease-causing germline mutation(s) in | Assessed | HGNC:3755 | ENSG00000136068 | 603381 | 3p14.3 | filamin B |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
27 annotations · validated 2019-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0031095 | Abnormal humerus morphology | |
| HP:0003417 | Coronal cleft vertebrae | |
| HP:0006408 | Distal tapering femur | |
| HP:0003042 | Elbow dislocation | |
| HP:0002827 | Hip dislocation | |
| HP:0004976 | Knee dislocation | |
| HP:0002999 | Patellar dislocation | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001248 | Short tubular bones of the hand | |
| HP:0001762 | Talipes equinovarus | |
| HP:0008417 | Vertebral hypoplasia | |
| Occasional (29-5%) | ||
| HP:0005905 | Abnormal cervical curvature | |
| HP:0003862 | Absent humerus | |
| HP:0003974 | Absent radius | |
| HP:0006384 | Club-shaped distal femur | |
| HP:0003902 | Epiphyseal stippling of the humerus | |
| HP:0002990 | Fibular aplasia | |
| HP:0001263 | Global developmental delay | |
| HP:0001188 | Hand clenching | |
| HP:0000218 | High palate | |
| HP:0008755 | Laryngotracheomalacia | |
| HP:0000347 | Micrognathia | |
| HP:0001561 | Polyhydramnios | |
| HP:0005736 | Short tibia | |
| HP:0005257 | Thoracic hypoplasia | |
| HP:0005619 | Thoracolumbar kyphosis | |
| HP:0003049 | Ulnar deviation of the wrist | |
Annotation source: 9133349[PMID]_16752402[PMID]_20301736[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/56305
- This record as JSON: /data/d/56305.json