ORPHA:1144
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Synonyms: Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome · Distal arthrogryposis type 6
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arthrogryposis-like hand anomaly-sensorineural deafness syndrome | Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome · Distal arthrogryposis type 6 |
| fr | Syndrome d'arthrogrypose de la main-surdité | Arthrogrypose distale type 6 |
| de | Arthrogrypose-ähnliche Handanomalie mit sensorineuraler Schwerhörigkeit | Arthrogrypose, distale, Typ 6 |
| es | Síndrome de anomalías de la mano similar a artrogriposis-sordera neurosensorial | Artrogriposis distal tipo 6 · Síndrome de anomalías de la mano artrogriposis-like-sordera neurosensorial · Síndrome de anomalías de la mano similar a artrogriposis-hipoacusia neurosensorial |
| it | Anomalia delle mani simile all'artrogriposi - sordità neurosensoriale | Artrogriposi distale, tipo 6 |
| nl | Artrogrypose-achtige handanomalie - sensorineurale doofheid-syndroom | Distale artrogrypose type 6 |
| pt | Síndrome de anomalia da mão tipo artrogripose-surdez neurossensorial | Artrogripose distal tipo 6 |
| pl | Wada dłoni podobna do artrogrypozy - głuchota czuciowo-nerwowa | Artrogrypoza dystalna typu 6 |
| cs | Distální artrogrypóza, typ 6 | Syndrom zahrnující anomálii ruky podobnou artrogrypóze a percepční nedoslýchavost |
| uk | Синдром артрогрипоз-подібної аномалії кисті та сенсоневральної глухоти | Синдром подібної до артрогрипозної аномалії кисті-сенсоневральної приглуховатості · Дистальний артрогрипоз, тип 6 |
| zh | 关节挛缩样手畸形-感觉神经性耳聋综合征 | 关节挛缩样手畸形-感音神经性听力丧失综合征 |
| tr | Artrogripoz benzeri el anomalisi-sensörinöral sağırlık sendromu | Distal artrogripozis tip 6 · Artrogripozis benzeri el anomalisi-sensörinöral işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108200 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0007159 | E | validated | |
| MeSH | C535386 | E | validated | |
| UMLS | C1862471 | E | validated | |
| GARD | 784 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 5539065[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5539065[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.
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HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0001387 | Joint stiffness | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0004326 | Cachexia | |
| HP:0004322 | Short stature | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1144
- This record as JSON: /data/d/1144.json