Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Synonyms: Goossens-Devriendt syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuropituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brain malformation-congenital heart disease-postaxial polydactyly syndrome | Goossens-Devriendt syndrome |
| fr | Syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie post-axiale | Syndrome de Goossens-Devriendt |
| de | Hirnfehlbildung-kongenitaler Herzfehler-postaxiale Polydaktylie-Syndrom | |
| es | Síndrome de malformación cerebral-enfermedad cardíaca congénita-polidactilia postaxial | Síndrome de Goossens-Devriendt |
| it | Malformazione cerebrale-cardiopatia congenita-polidattilia postassiale | |
| nl | Malformatie van hersenen - congenitale hartziekte - postaxiale polydactylie-syndroom | Syndroom van Goossens-Devriendt |
| pt | Síndrome de malformação cerebral-doença cardíaca congénita-polidactilia pós-axial | Síndrome Goossens-Devriendt |
| pl | Malformacje mózgu - wrodzona choroba serca - polidaktylia zaosiowa | Zespół Goossensa i Devriendta |
| cs | Syndrom zahrnující malformaci mozku, vrozené onemocnění srdce a postaxiální polydaktylii | Goossensův-Devriendtův syndrom · Goossens-Devriendtův syndrom |
| uk | Синдром вади розвитку головного мозку-вродженої вади серця-постаксіальної полідактилії | Синдром Гуссенса-Девріндта |
| zh | 脑畸形-先天性心脏病-轴后性多指综合征 | Goossens-Devriendt综合征 |
| tr | Beyin malformasyonu-Doğumsal kalp hastalığı-postaksiyal polidaktili sendromu | Goossens-Devriendt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0019153 | E | validated | |
| UMLS | C4303545 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 16531731[PMID] | |
| 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.
HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000343 | Long philtrum | |
| HP:0008404 | Nail dystrophy | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0001596 | Alopecia | |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | |
| HP:0001631 | Atrial septal defect | |
| HP:0002299 | Brittle hair | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002208 | Coarse hair | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0000089 | Renal hypoplasia | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0011747 | Abnormality of the anterior pituitary | |
| HP:0011757 | Posterior pituitary hypoplasia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75389
- This record as JSON: /data/d/75389.json