ORPHA:1190
Atelosteogenesis type I
Synonyms: AO1 · AOI · Atelosteogenesis type 1 · Giant cell chondrodysplasia · Spondylo-humero-femoral dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atelosteogenesis type I | AO1 · AOI · Atelosteogenesis type 1 · Giant cell chondrodysplasia · Spondylo-humero-femoral dysplasia |
| fr | Atélostéogenèse type I | AO1 · AOI · Atélostéogenèse type 1 · Chondrodysplasie à cellules géantes · Dysplasie spondylo-huméro-fémorale |
| de | Atelosteogenesis Typ I | AO1 · AOI · Atelosteogenesis Typ 1 · Dysplasie, spondylo-humero-femorale · Riesenzellchondrodysplasie |
| es | Atelosteogénesis tipo I | AO1 · Atelosteogénesis tipo 1 · Condrodisplasia de células gigantes · Displasia espondilo-húmero-femoral |
| it | Atelosteogenesi tipo 1 | AO1 · AOI · Condrodisplasia a cellule giganti · Displasia spondilo-omero-femorale |
| nl | Atelosteogenese type I | AO1 · AOI · Atelosteogenese type 1 · Reuscelchondrodysplasie · Spondylo-humero-femorale dysplasie |
| pt | Atelosteogénese tipo I | Condrodisplasia de células gigantes · Displasia espondilo-úmero-femoral |
| pl | Atelosteogeneza typu I | AO1 · AOI · Chondrodysplazja wielkokomórkowa · Dysplazja kręgowo-ramienno-udowa |
| cs | Atelosteogeneze, typ I | AO1 · AOI · Atelosteogeneze, typ 1 · Spondylohumerofemorální dysplázie · Obrovskobuněčná chondrodysplázie |
| uk | Ателостеогенез, тип I | AO1 · AOI · Ателостеогенез типу 1 · Гігантоклітинна хондродисплазія · Спондило-гумеро-стегнова дисплазія |
| zh | 骨发育不全症1型 | 脊柱-肱骨-股骨发育不良 |
| tr | Atelosteogenez tip I | AO1 · AOI · Atelosteogenez tip 1 · Dev hücreli kondrodisplazi · Spondilo-humero-femoral displazi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108720 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | index | validated |
| MONDO | 0007167 | E | validated | |
| MeSH | C535396 | E | validated | |
| UMLS | C0265283 | E | validated | |
| GARD | 9287 | 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 (3):
- ORPHA:93425Filamin-related bone disorder
rare genetic 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) (gain of function) in | Assessed | HGNC:3755 | ENSG00000136068 | 603381 | 3p14.3 | filamin B | 20301736[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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
32 annotations · validated 2019-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0009107 | Abnormal ossification involving the femoral head and neck | |
| HP:0004599 | Absent or minimally ossified vertebral bodies | |
| HP:0001156 | Brachydactyly | |
| HP:0003417 | Coronal cleft vertebrae | |
| HP:0009826 | Limb undergrowth | |
| HP:0011800 | Midface retrusion | |
| HP:0000774 | Narrow chest | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0008905 | Rhizomelia | |
| HP:0003097 | Short femur | |
| HP:0001762 | Talipes equinovarus | |
| HP:0005257 | Thoracic hypoplasia | |
| Occasional (29-5%) | ||
| HP:0030992 | Abnormal pancreatic duct morphology | |
| HP:0000175 | Cleft palate | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0000316 | Hypertelorism | |
| HP:0001373 | Joint dislocation | |
| HP:0001602 | Laryngeal stenosis | |
| HP:0004894 | Laryngotracheal stenosis | |
| HP:0000369 | Low-set ears | |
| HP:0004785 | Malrotation of colon | |
| HP:0000347 | Micrognathia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0008857 | Neonatal short-trunk short stature | |
| HP:0000926 | Platyspondyly | |
| HP:0001561 | Polyhydramnios | |
| HP:0000520 | Proptosis | |
| HP:0007973 | Retinal dysplasia | |
| HP:0002650 | Scoliosis | |
| HP:0003026 | Short long bone | |
| HP:0000506 | Telecanthus | |
Annotation source: 12454961[PMID]_23401428[PMID]_21985323[PMID]_20301736[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1190
- This record as JSON: /data/d/1190.json