Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Synonyms: Dinno syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Infancy, Neonatal
- Status
- active
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome | Dinno syndrome |
| fr | Syndrome de contractures-pterygium colli-micrognathie-mamelons hypoplasiques | Syndrome de Dinno |
| de | Kontrakturen-Pterygium colli-Mikrognathie-hypoplastische Mamillen-Syndrom | Dinno-Syndrom |
| es | Síndrome de contracturas-cuello palmeado-micrognatia-pezones hipoplásicos | Síndrome de Dinno |
| it | Sindrome da contratture, collo palmato, micrognazia ed ipoplasia dei capezzoli | Sindrome di Dinno |
| nl | Contracturen - pterygium colli - micrognatie - hypoplastische tepels-syndroom | Dinnosyndroom |
| pt | Síndrome de contraturas-pescoço alado-micrognatia-hipoplasia mamilar | Síndrome Dinno |
| pl | Zespół przykurcze-płetwistość szyi-mikrognacja-hipoplastyczne sutki | Zespół Dinno |
| cs | Syndrom zahrnující kontraktury, pterygium colli, mikrognátii a hypoplastické bradavky | Dinno syndrom |
| uk | Синдром контрактур-крилоподібної шиї-мікрогнатії-гіпопластичних сосків | Синдром Дінно |
| zh | 挛缩-颈蹼-小颌畸形-乳头发育不全综合征 | Dinno综合征 |
| tr | Kontraktürler-perdeli boyun-mikrognati-hipoplastik meme uçları sendromu | Trizomi 2q23.1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017788 | E | validated | |
| UMLS | C4751075 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22383252[PMID] | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314002
- This record as JSON: /data/d/314002.json