ORPHA:3304
Fallot complex-intellectual disability-growth delay syndrome
Synonyms: Bindewald-Ulmer-Müller syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fallot complex-intellectual disability-growth delay syndrome | Bindewald-Ulmer-Müller syndrome |
| fr | Syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle | Syndrome de Bindewald-Ulmer-Müller |
| de | Fallot-Tetralogie mit Intelligenzminderung und Wachstumsverzögerungen | Bindewald-Ulmer-Müller-Syndrom |
| es | Síndrome de complejo de Fallot-discapacidad intelectual-retraso del crecimiento | Síndrome de Bindewald-Ulmer-Müller |
| it | Sindrome tetralogia di Fallot-disabilità intellettiva-ritardo della crescita | Sindrome di Bindewald-Ulmer-Müller |
| nl | Tetralogie van Fallot - intellectuele achterstand - groeiachterstand-syndroom | Syndroom van Bindewald-Ulmer-Müller |
| pt | Síndrome de complexo de Fallot-perturbação do desenvolvimento intelectual-atraso de crescimento | Síndrome Bindewald-Ulmer-Müller |
| pl | Kompleks Fallota - niepełnosprawność intelektualna - opóźnienie wzrostu | Zespół Bindewalda, Ulmera i Müllera |
| cs | Syndrom zahrnující Fallotovu tetralogii, mentální retardaci a opoždění růstu | Bindewaldové-Ulmerův-Müllerův syndrom · Bindewald-Ulmer-Müllerův syndrom |
| uk | Синдром комплекса Фалло-інтелектуальної недостатності-затримки росту | Синдром Біндевальда-Ульмера-Мюллера |
| zh | 法洛四联症-智力障碍-生长迟缓综合征 | Bindewald-Ulmer-Müller综合征 |
| tr | Fallot kompleksi-zihinsel yetersizlik-büyüme gecikmesi sendromu | Bindewald-Ulmer-Müller sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601127 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010999 | E | validated | |
| MeSH | C536608 | E | validated | |
| UMLS | C1832735 | E | validated | |
| GARD | 893 | 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 (2):
- 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
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 8010348[PMID]_15578610[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8010348[PMID]_15578610[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
33 annotations · validated 2019-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002187 | Intellectual disability, profound | |
| HP:0000411 | Protruding ear | |
| HP:0001525 | Severe failure to thrive | |
| Frequent (79-30%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0001631 | Atrial septal defect | |
| HP:0000028 | Cryptorchidism | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0011335 | Frontal hirsutism | |
| HP:0000218 | High palate | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001636 | Tetralogy of Fallot | |
| Occasional (29-5%) | ||
| HP:0100759 | Clubbing of fingers | |
| HP:0100760 | Clubbing of toes | |
| HP:0000961 | Cyanosis | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0005278 | Hypoplastic nasal tip | |
| HP:0002179 | Opisthotonus | |
| HP:0002623 | Overriding aorta | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0005301 | Persistent left superior vena cava | |
| HP:0000403 | Recurrent otitis media | |
| HP:0000486 | Strabismus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0007687 | Unilateral ptosis | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 15578610[PMID]_8010348[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3304
- This record as JSON: /data/d/3304.json