Trismus-pseudocamptodactyly syndrome
Synonyms: Distal arthrogryposis type 7 · Dutch-Kentucky syndrome · Hecht syndrome · Hecht-Beals syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trismus-pseudocamptodactyly syndrome | Distal arthrogryposis type 7 · Dutch-Kentucky syndrome · Hecht syndrome · Hecht-Beals syndrome |
| fr | Syndrome de trismus-pseudocamptodactylie | Arthrogrypose distale type 7 · Syndrome de Dutch-Kentucky · Syndrome de Hecht · Syndrome de Hecht-Beals |
| de | Trismus - Pseudokamptodaktylie | Arthrogrypose, distale, Typ 7 · Dutch-Kentucky-Syndrom · Hecht-Beals-Syndrom · Hecht-Syndrom |
| es | Síndrome de trismo-pseudocamptodactilia | Artrogriposis distal tipo 7 · Síndrome de Dutch-Kentucky · Síndrome de Hecht · Síndrome de Hecht-Beals |
| it | Sindrome da trisma e pseudocamptodattilia | |
| nl | Trismus - pseudocamptodactylie | Distale artrogrypose type 7 · Dutch-Kentuckysyndroom · Hecht-Bealssyndroom · Hechtsyndroom |
| pt | Síndrome de trismo-pseudocamptodactilia | Artrogripose distal tipo 7 · Síndrome Dutch-Kentucky · Síndrome Hecht · Síndrome Hecht-Beals |
| pl | Szczękościsk - pseudokamptodaktylia | Artrogrypoza dystalna typu 7 · Zespół Dutch i Kentucky · Zespół Hechta · Zespół Hechta i Bealsa |
| cs | Syndrom zahrnující trismus s pseudokamptodaktylii | Distální artrogrypóza, typ 7 · Holandsko-kentucký syndrom · Hechtův syndrom · Hechtův-Bealsův syndrom · Hecht-Bealsův syndrom |
| uk | Синдром тризму-псевдокампактодактилії | Дистальний артрогрипоз, тип 7 · Синдром Голландського-Кентуккі · Синдром Гехта · Синдром Гехта-Білза |
| zh | 牙关紧闭-假性先天性指屈曲综合征 | 远端关节挛缩7型 |
| tr | Trismus-psödokamptodaktili sendromu | Hecht sendromu · Hecht-Beals sendromu · Dutch-Kentucky sendromu · Distal artrogripozis tip 7 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158300 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0008016 | E | validated | |
| MeSH | C535857 | E | validated | |
| UMLS | C0265226 | E | validated | |
| GARD | 2621 | 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 (1):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH8 | Disease-causing germline mutation(s) in | Assessed | HGNC:7578 | ENSG00000133020 | 160741 | 17p13.1 | myosin heavy chain 8 | 17041932[PMID]_18049072[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003011 | Abnormality of the musculature | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0004322 | Short stature | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| Occasional (29-5%) | ||
| HP:0002827 | Hip dislocation | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000508 | Ptosis | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3377
- This record as JSON: /data/d/3377.json