Gordon syndrome
Synonyms: Camptodactyly-cleft palate-clubfoot syndrome · Distal arthrogryposis type 3 · Distal arthrogryposis type IIA
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gordon syndrome | Camptodactyly-cleft palate-clubfoot syndrome · Distal arthrogryposis type 3 · Distal arthrogryposis type IIA |
| fr | Syndrome de Gordon | Arthrogrypose distale type 3 · Arthrogrypose distale type IIA · Syndrome de camptodactylie-pied bot-fente palatine |
| de | Gordon-Syndrom | Arthrogrypose, distale, Typ 3 · Arthrogrypose, distale, Typ IIA · Kamptodaktylie-Gaumenspalte-Klumpfuß-Syndrom |
| es | Síndrome de Gordon | Artrogriposis distal tipo 3 · Artrogriposis distal tipo IIA · Síndrome de campodactilia-paladar hendido-pie zambo |
| it | Sindrome di Gordon | Artrogriposi distale, tipo 2A · Artrogriposi distale, tipo 3 · Camptodattilia - palatoschisi - piedi torti |
| nl | Syndroom van Gordon | Distale artrogrypose type 3 · Distale artrogrypose type IIA · camptodactylie - gespleten verhemelte - klompvoet-syndroom |
| pt | Síndrome Gordon | Artrogripose distal tipo 3 · Artrogripose distal tipo IIA · Síndrome de camptodactilia-fenda do palato-pés botos |
| pl | Zespół Gordona | Artrogrypoza dystalna typu 3 · Artrogrypoza dystalna typu IIA · Kamptodaktylia - rozszczep podniebienia - stopa końsko-szpotawa |
| cs | Gordonův syndrom | Distální artrogrypóza, typ 3 · Distální artrogryóza, typ IIA · Syndrom zahrnující kamptodaktylii, rozštěp rtu a pes equinovarus |
| uk | Синдром Гордона | Синдром камптодактилії-розщілинипіднебіння-клишоногості · Дистальний артрогрипоз, тип 3 · Дистальний артрогрипоз IIA типу |
| zh | Gordon综合征 | 先天性指屈曲-腭裂-先天性畸形足综合征 |
| tr | Gordon sendromu | Distal artrogripozis tip 3 · Distal artrogripozis tip IIA · Kamptodaktili-yarık damak-clubfoot sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114300 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0007252 | E | validated | |
| MeSH | C537288 | E | validated | |
| UMLS | C0220666 | E | validated | |
| GARD | 2553 | 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 (4):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases - 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIEZO2 | Disease-causing germline mutation(s) in | Assessed | HGNC:26270 | ENSG00000154864 | 613629 | 18p11.22-p11.21 | piezo type mechanosensitive ion channel component 2 | 24726473[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0001883 | Talipes | |
| Frequent (79-30%) | ||
| HP:0003199 | Decreased muscle mass | |
| HP:0000218 | High palate | |
| Occasional (29-5%) | ||
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000324 | Facial asymmetry | |
| HP:0006101 | Finger syndactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000767 | Pectus excavatum | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/376
- This record as JSON: /data/d/376.json