ORPHA:392
Holt-Oram syndrome
Synonyms: Atriodigital dysplasia type 1 · HOS · Heart-hand syndrome type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Holt-Oram syndrome | Atriodigital dysplasia type 1 · HOS · Heart-hand syndrome type 1 |
| fr | Syndrome de Holt-Oram | Syndrome coeur-main type 1 · Syndrome coeur-membres type 1 · Dysplasie atrio-digitale type 1 · HOS · Syndrome cardiomélique type 1 |
| de | Holt-Oram-Syndrom | Dysplasie, atriodigitale, Typ 1 · HOS · Herz-Hand-Syndrom Typ 1 |
| es | Síndrome de Holt-Oram | Displasia atriodigital tipo 1 · Síndrome mano-corazón tipo 1 |
| it | Sindrome di Holt-Oram | Displasia atriodigitale · Sindrome cuore-mano |
| nl | Syndroom van Holt-Oram | Atriodigitale dysplasie type 1 · HOS · Hart-handsyndroom type 1 |
| pt | Síndrome Holt-Oram | Displasia auriculo-digital · Síndrome coração-mão |
| pl | Zespół Holt i Orama | Dysplazja przedsionkowo-palcowa typu 1 · HOS · Zespół serce - ręka typu 1 |
| cs | Holtové-Oramův syndrom | Atriodigitální dysplázie, typ I · HOS · Holt-Oramův syndrom |
| uk | Синдром Холта-Орама | Атріодигітальна дисплазія типу 1 · Синдром серце-рука, тип 1 · HOS |
| zh | Holt-Oram综合征 | 心房-手指发育不良1型 |
| tr | Holt-Oram sendromu | HOS · Kalp-el sendromu tip 1 · Atriyodijital displazi tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 142900 | E | validated | |
| ICD-10 | Q87.2 | NTBT | inclusion | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007732 | E | validated | |
| MeSH | C535326 | E | validated | |
| UMLS | C0265264 | E | validated | |
| GARD | 6666 | E | validated | |
| MedDRA | 10050469 | 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 (7):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:228184Heart-hand syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1940Shoulder and thorax deformity-congenital heart disease syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:11604 | ENSG00000089225 | 601620 | 12q24.21 | T-box transcription factor 5 | 20301290[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Europe | Value and class | Validated | 25344219[PMID]_EUROCAT European surveillance of congenital anomalies 1990-2011[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.95 / 100 000 | Hungary | Value and class | Validated | 1996196[PMID]_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0001387 | Joint stiffness | |
| HP:0001171 | Split hand | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0009777 | Absent thumb | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0001631 | Atrial septal defect | |
| HP:0001678 | Atrioventricular block | |
| HP:0011705 | First degree atrioventricular block | |
| HP:0002808 | Kyphosis | |
| HP:0004757 | Paroxysmal atrial fibrillation | |
| HP:0002650 | Scoliosis | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0031095 | Abnormal humerus morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0010772 | Anomalous pulmonary venous return | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0011304 | Broad thumb | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0006101 | Finger syndactyly | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000767 | Pectus excavatum | |
| HP:0009829 | Phocomelia | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0000912 | Sprengel anomaly | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/392
- This record as JSON: /data/d/392.json