ORPHA:140917
Stapes ankylosis with broad thumbs and toes
Synonyms: Teunissen-Cremers syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stapes ankylosis with broad thumbs and toes | Teunissen-Cremers syndrome |
| fr | Ankylose de l'étrier avec pouces et orteils larges | Syndrome de Teunissen-Cremers |
| de | Stapesankylose mit breiten Daumen und Zehen | |
| es | Anquilosis del estribo con pulgares y dedos de los pies anchos | Síndrome de Teunissen-Cremers |
| it | Anchilosi della staffa con pollici e dita dei piedi tozzi | |
| nl | Stapes-ankylose met brede duimen en tenen | Syndroom van Teunissen-Cremers |
| pt | Anquilose do estribo com polegares e dedos dos pés largos | |
| pl | Ankyloza strzemiączka z szerokimi kciukami i palcami stóp | Zespół Teunissena i Cremersa |
| cs | Ankylóza třmínku s širokými palci a prsty | Teunissenův-Cremersův syndrom · Teunissen-Cremersův syndrom |
| uk | Анкілоз пальців стопи з широкими великими і середніми пальцями | Синдром Теуніссена-Кремерса |
| zh | 拇指和脚趾镫骨关节强直症 | Teunissen-Cremers综合征 |
| tr | Geniş başparmak ve ayak parmaklı stapes ankilozu | Teunissen-Cremers sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184460 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008484 | E | validated | |
| UMLS | C1866656 | 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 (1):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOG | Disease-causing germline mutation(s) in | Assessed | HGNC:7866 | ENSG00000183691 | 602991 | 17q22 | noggin | 12089654[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140917
- This record as JSON: /data/d/140917.json