ORPHA:1147
Sheldon-Hall syndrome
Synonyms: DA2B · Distal arthrogryposis multiplex congenita type 2B · Distal arthrogryposis type 2B · Freeman-Sheldon syndrome variant · SSH
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Neonatal
- Status
- active
A form of distal arthrogryposis characterized by multiple congenital non-progressive contractures of the distal joints of the limbs, in the absence of a primary neurological and/or muscle disease, and distinctive facial features, such as a triangular face shape, downslanting palpebral fissures, small mouth and high arched palate.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sheldon-Hall syndrome | DA2B · Distal arthrogryposis multiplex congenita type 2B · Distal arthrogryposis type 2B · Freeman-Sheldon syndrome variant · SSH |
| fr | Syndrome de Sheldon-Hall | Arthrogrypose distale type 2B · Arthrogrypose distale type II · Arthrogrypose multiple congénitale type 2B · DA2B · SHS · Syndrome de Freeman-Sheldon variant |
| de | Sheldon-Hall-Syndrom | Arthrogrypose, distale, Typ 2B · DA2B · Distale Arthrogryposis multiplex congenita Typ 2B · Freeman-Sheldon-Syndrom (Variante) · SSH |
| es | Síndrome de Sheldon-Hall | AD2B · Artrogriposis distal tipo 2B · Artrogriposis múltiple congénita distal tipo 2B · Variante del síndrome de Freeman-Sheldon |
| it | Sindrome di Sheldon-Hall | Artrogriposi distale, tipo 2B · Variante della sindrome di Freeman-Sheldon · Artrogriposi distale multipla congenita tipo 2B · SSH · Artrogriposi distale tipo 2B · DA2B |
| nl | Syndroom van Sheldon-Hall | DA2B · Distale arthrogryposis multiplex congenita type 2B · Distale artrogrypose type 2B · SSH · Variant van syndroom van Freeman-Sheldon |
| pt | Síndrome Sheldon-Hall | Artrogripose distal múltipla complexa tipo 2B · Artrogripose distal tipo 2B · DA2B · SSH · Síndrome Freeman-Sheldon variante |
| pl | Zespół Sheldona i Hall | Artrogrypoza dystalna typu 2B · Wariant zespołu Freemana i Sheldona |
| cs | Sheldonův-Hallův syndrom | Distální artrogrypóza, typ IIb · Sheldon-Hallův syndrom |
| uk | Синдром Шелдона-Холла | Дистальний артрогрипоз, тип 2B · Варіант синдрому Фрімана-Шелдона |
| zh | Sheldon-Hall综合征 | Freeman-Sheldon综合征变异型 |
| tr | Sheldon-Hall sendromu | Distal artrogripozis tip 2B · Freeman-Sheldon sendromu varyantı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108120 | NTBT | validated | |
| OMIM | 601680 | BTNT | validated | |
| OMIM | 616266 | BTNT | validated | |
| OMIM | 618435 | BTNT | validated | |
| OMIM | 618436 | BTNT | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0011128 | E | validated | |
| MeSH | C538400 | E | validated | |
| UMLS | C1834523 | 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 (2):
- ORPHA:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98738Neurological muscular channelopathy due to a genetic sodium channel defect
rare genetic diseases; rare neurological diseases
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7573 | ENSG00000109063 | 160720 | 17p13.1 | myosin heavy chain 3 | 23401156[PMID]_16642020[PMID] |
| NALCN | Disease-causing germline mutation(s) in | Assessed | HGNC:19082 | ENSG00000102452 | 611549 | 13q32.3-q33.1 | sodium leak channel, non-selective | 25683120[PMID] |
| TNNI2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11946 | ENSG00000130598 | 191043 | 11p15.5 | troponin I2, fast skeletal type | 23401156[PMID] |
| TNNT3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11950 | ENSG00000130595 | 600692 | 11p15.5 | troponin T3, fast skeletal type | 23401156[PMID] |
| TPM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12011 | ENSG00000198467 | 190990 | 9p13.3 | tropomyosin 2 | 23401156[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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001387 | Joint stiffness | |
| HP:0002650 | Scoliosis | |
| HP:0000465 | Webbed neck | |
| Frequent (79-30%) | ||
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000218 | High palate | |
| HP:0000347 | Micrognathia | |
| HP:0000275 | Narrow face | |
| HP:0010557 | Overlapping fingers | |
| HP:0000411 | Protruding ear | |
| HP:0100830 | Round ear | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0008368 | Tarsal synostosis | |
| HP:0009465 | Ulnar deviation of finger | |
| HP:0003049 | Ulnar deviation of the wrist | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1147
- This record as JSON: /data/d/1147.json