ORPHA:2075
Genitopalatocardiac syndrome
historical
Synonyms: Gardner-Silengo-Wachtel syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genitopalatocardiac syndrome | Gardner-Silengo-Wachtel syndrome |
| fr | Syndrome génito-palato-cardiaque | Syndrome de Gardner-Silengo-Wachtel |
| de | Genito-palato-kardiales Syndrom | Gardner-Silengo-Wachtel-Syndrom |
| es | Síndrome génito-palato-cardíaco | Síndrome de Gardner-Silengo-Wachtel |
| it | Sindrome genito-palato-cardiaca | Sindrome di Gardner-Silengo-Wachtel |
| nl | Genitopalatocardiaal syndroom | Syndroom van Gardner-Silengo-Wachtel |
| pt | Síndrome genito-palato-cardíaco | Síndrome Gardner-Silengo-Wachtel |
| pl | Zespół płciowo-podniebienno-sercowy | Zespół Gardnera, Silengo i Wachtela |
| cs | Genitopalatokardiální syndrom | Gardnerův-Silengův-Wachtelův syndrom · Gardner-Silengo-Wachtelův syndrom |
| uk | Генітопалатокардіальний синдром | Синдром Гарднера-Сіленго-Вахтеля |
| zh | Genitopalatocardiac综合征 | Gardner-Silengo-Wachtel综合征 |
| tr | Genitopalatokardiyak sendrom | Gardner-Silengo-Wachtel sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231060 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009270 | E | validated | |
| MeSH | C537683 | E | validated | |
| UMLS | C1856466 | E | validated | |
| GARD | 2460 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 19283856[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19283856[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.
6
HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000175 | Cleft palate | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0000347 | Micrognathia | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0008668 | Gonadal dysgenesis, male | |
| HP:0000047 | Hypospadias | |
| Occasional (29-5%) | ||
| HP:0100016 | Abnormality of mesentery morphology | |
| HP:0005264 | Abnormality of the gallbladder | |
| HP:0001156 | Brachydactyly | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0002808 | Kyphosis | |
| HP:0000252 | Microcephaly | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0002650 | Scoliosis | |
| HP:0000431 | Wide nasal bridge | |
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2075
- This record as JSON: /data/d/2075.json