ORPHA:3237
Multiple synostoses syndrome
Synonyms: Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism · Hearing loss-Hermann type symphalangism syndrome · Symphalangism-brachydactyly syndrome · WL syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple synostoses syndrome | Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism · Hearing loss-Hermann type symphalangism syndrome · Symphalangism-brachydactyly syndrome · WL syndrome |
| fr | Syndrome des synostoses multiples | Syndrome WL · Syndrome de surdité-symphalangie type Hermann · Syndrome de symphalangie-brachydactylie · Facio-audio-symphalangie |
| de | Multiple Synostosen | Fazio-audio-Symphalangie · Schwerhörigkeit - Symphalangie-Syndrom, Typ Hermann · Symphalangie - Brachydaktylie · WL-Syndrom |
| es | Síndrome de sinostosis múltiple | Facio-audio-sinfalangismo · Sinfalangismo-braquidactilia · Síndrome WL · Síndrome de WL · Síndrome de hipoacusia-sinfalangismo tipo Hermann · Síndrome de sordera-sinfalangismo tipo Hermann |
| it | Sindrome da sinostosi multiple | Facio-audio-sinfalangismo · Sindrome WL · Sindrome sordità-sinfalangismo, tipo Hermann · Sinfalangismo - brachidattilia |
| nl | Meervoudige synostosen-syndroom | Doofheid - symfalangisme syndroom, Hermann-type · Facio-audio-symfalangisme · Symfalangisme - brachydactylie-syndroom · WL-syndroom |
| pt | Síndrome de sinostoses múltiplas | Facio-audio-sinfalangia · Síndrome WL · Síndrome de perda auditiva-sinfalangia de Hermann · Síndrome de sinfalangia-braquidactilia · Síndrome de surdez-sinfalangia de Hermann |
| pl | Zespół mnogich kościozrostów | Facio-audio-symphalangism · Symfalangizm-brachydaktylia · Zespół głuchota - symfalangizm typu Hermanna · Zespół WL |
| cs | Syndrom mnohočetných synostóz | Facioaudiosymfalangismus · Syndrom zahrnující symfalangismus a brachydaktylii · WL syndrom · Syndrom zahrnující hluchotu a Hermannův typ symfalangismu |
| uk | Синдром множинних синостозів | Синдром симфалангізму типу глухоти-Германа · Фаціо-аудіо-симфалангізм · Синдром втрати слуху - симфалангізм типу Германа · Синдром симфалангізму-брахідактилії · Синдром WL |
| zh | 多发骨性结合综合征 | 听力丧失-Hermann型指（趾）关节粘连综合征 |
| tr | Çoklu sinostoz sendromu | WL sendromu · Fasiyo-audio-semfalangizm · Semfalangizm-brakidaktili sendromu · Sağırlık-Hermann tipi semfalangizm sendromu · İşitme kaybı-Hermann tipi semfalangizm sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 186500 | BTNT | validated | |
| OMIM | 610017 | BTNT | validated | |
| OMIM | 612961 | BTNT | validated | |
| OMIM | 617898 | BTNT | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD26.3 | NTBT | index | validated |
| MONDO | 0017923 | E | validated | |
| UMLS | C0175700 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:93459Syndrome with synostosis or other joint formation defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GDF5 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:4220 | ENSG00000125965 | 601146 | 20q11.22 | growth differentiation factor 5 | 16532400[PMID] |
| FGF9 | Disease-causing germline mutation(s) in | Assessed | HGNC:3687 | ENSG00000102678 | 600921 | 13q12.11 | fibroblast growth factor 9 | 19589401[PMID] |
| GDF6 | Disease-causing germline mutation(s) in | Assessed | HGNC:4221 | ENSG00000156466 | 601147 | 8q22.1 | growth differentiation factor 6 | 29130651[PMID] |
| NOG | Disease-causing germline mutation(s) in | Assessed | HGNC:7866 | ENSG00000183691 | 602991 | 17q22 | noggin | 20503332[PMID]_25241334[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
10 annotations · validated 2017-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001387 | Joint stiffness | |
| HP:0004279 | Short palm | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| Frequent (79-30%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0011304 | Broad thumb | |
| HP:0010579 | Cone-shaped epiphysis | |
| Occasional (29-5%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000324 | Facial asymmetry | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3237
- This record as JSON: /data/d/3237.json