ORPHA:115
Congenital contractural arachnodactyly
Synonyms: Beals syndrome · Beals-Hecht syndrome · CCA syndrome · Distal arthrogryposis type 9
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, kyphoscoliosis, abnormal pinnae and muscular hypoplasia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital contractural arachnodactyly | Beals syndrome · Beals-Hecht syndrome · CCA syndrome · Distal arthrogryposis type 9 |
| fr | Arachnodactylie congénitale avec contractures | Arthrogrypose distale type 9 · Syndrome CCA · Syndrome de Beals · Syndrome de Beals-Hecht |
| de | Arachnodaktylie, kongenitale kontrakturale | Arthrogrypose, distale, Typ 9 · Beals-Hecht-Syndrom · Beals-Syndrom · CCA-Syndrom |
| es | Aracnodactilia congénita contractural | Artrogriposis distal tipo 9 · Síndrome ACC · Síndrome de Beals · Síndrome de Beals-Hecht |
| it | Sindrome contratture-aracnodattilia congenita | Artrogriposi distale, tipo 9 · Sindrome CCA · Sindrome di Beals · Sindrome di Beals-Hecht |
| nl | Congenitale contracturele arachnodactylie | CCA-syndroom · Distale artrogrypose type 9 · Syndroom van Beals · Syndroom van Beals-Hecht |
| pt | Aracnodactilia contratural congénita | Artrogripose distal tipo 9 · Síndrome Beals · Síndrome Beals-Hecht · Síndrome CCA |
| pl | Wrodzona archanodaktylia z przykurczami | Artrogrypoza dystalna typu 9 · Zespół Bealsa · Zespół Bealsa i Hechta · Zespół CCA |
| cs | Vrozená arachnodaktylie s kontrakturami | CCA syndrom · Distální artrogrypóza, typ IX · Bealsův syndrom · Bealsův-Hechtův syndrom · Beals-Hechtův syndrom |
| uk | Вроджена контрактурна арахнодактилія | Синдром Білса · Синдром Білса-Хета · Синдром ССС · Дистальний артрогрипоз, тип 9 |
| zh | 先天性挛缩型蜘蛛状指 | 9型远端关节挛缩 |
| tr | Doğumsal kontraktürel araknodaktili | CCA sendromu · Beals sendromu · Beals-Hecht sendromu · Distal artrogripozis tip 9 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 121050 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD28.00 | E | specific | validated |
| MONDO | 0007363 | E | validated | |
| MeSH | C536211 | E | validated | |
| UMLS | C0220668 | E | validated | |
| GARD | 5899 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:284993Marfan syndrome and Marfan-related disorders
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FBN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:3604 | ENSG00000138829 | 612570 | 5q23.3 | fibrillin 2 | 20301560[PMID] |
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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.
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HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003011 | Abnormality of the musculature | |
| HP:0008544 | Abnormally folded helix | |
| HP:0001166 | Arachnodactyly | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002803 | Congenital contracture | |
| HP:0008453 | Congenital kyphoscoliosis | |
| HP:0009901 | Crumpled ear | |
| HP:0001371 | Flexion contracture | |
| HP:0000218 | High palate | |
| HP:0001387 | Joint stiffness | |
| HP:0002650 | Scoliosis | |
| HP:0001533 | Slender build | |
| Frequent (79-30%) | ||
| HP:0001519 | Disproportionate tall stature | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0004942 | Aortic aneurysm | |
| HP:0002247 | Duodenal atresia | |
| HP:0001083 | Ectopia lentis | |
| HP:0002566 | Intestinal malrotation | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0002575 | Tracheoesophageal fistula | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/115
- This record as JSON: /data/d/115.json