ORPHA:3316
Thomas syndrome
Synonyms: Potter sequence-cleft lip/palate-cardiopathy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thomas syndrome | Potter sequence-cleft lip/palate-cardiopathy syndrome |
| fr | Syndrome de Thomas | Syndrome de séquence de Potter-fente-cardiopathie |
| de | Thomas-Syndrom | Syndrom der Potter-Sequenz mit Lippen- oder Gaumenspalte und Kardiopathie |
| es | Síndrome de Thomas | Secuencia de Potter-fisura-cardiopatía |
| it | Sindrome di Thomas | Sequenza di Potter - schisi - cardiopatia |
| nl | Syndroom van Thomas | Potter-sequentie - gespleten lip/gehemelte - cardiopathie-syndroom |
| pt | Síndrome Thomas | Síndrome de sequência de Potter-fenda labio-palatina-cardiopatia |
| pl | Zespół Thomasa | Sekwencja Pottera - rozszczep wargi/podniebienia - kardiopatia |
| cs | Thomasův syndrom | Syndrom zahrnující sekvenci Potterové, rozštěp rtu/patra a kardiopatii |
| uk | Синдром Томаса | Синдром послідовності Поттера - щілина губи/піднебіння-кардіопатія |
| zh | 托马斯综合征 | Potter序列-唇腭裂-心脏病综合征 |
| tr | Thomas sendromu | Potter dizisi-yarık dudak/damak-kardiyopati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 8A00.1Y | NTBT | index | validated |
| MONDO | 0018043 | E | validated | |
| MeSH | C536514 | E | validated | |
| UMLS | C2931225 | E | validated | |
| GARD | 5175 | 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 (5):
- 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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
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 | 6 cases | Worldwide | Case(s) | Validated | 8456859[PMID]_8882777[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8456859[PMID]_8882777[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001562 | Oligohydramnios | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| Frequent (79-30%) | ||
| HP:0000268 | Dolichocephaly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0004383 | Hypoplastic left heart | |
Run the differential on the 6 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3316
- This record as JSON: /data/d/3316.json