Otoonychoperoneal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Otoonychoperoneal syndrome | |
| fr | Syndrome oto-onycho-péronéal | |
| de | Oto-onycho-peroneales Syndrom | |
| es | Síndrome oto-ónico-peroneal | |
| it | Sindrome oto-onico-peroneale | |
| nl | Oto-onycho-peroneaal syndroom | |
| pt | Síndrome oto-onico-peroneal | |
| pl | Zespół uszno-paznokciowo-strzałkowy | |
| cs | Otoonychoperoneální syndrom | |
| uk | Отооніхоперонеальний синдром | |
| zh | 耳指甲腓骨综合征 | |
| tr | Otoonkopperoneal sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259780 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD27.4 | NTBT | index | validated |
| MONDO | 0009822 | E | validated | |
| MeSH | C564912 | E | validated | |
| UMLS | C1850105 | E | validated | |
| GARD | 4170 | 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 (5):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - 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 - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
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 | 6 cases | Worldwide | Case(s) | Validated | 15216555[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15216555[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.
HPO phenotypes
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0011039 | Abnormal helix morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0001371 | Flexion contracture | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0006380 | Knee flexion contracture | |
| HP:0000400 | Macrotia | |
| HP:0009756 | Popliteal pterygium | |
| HP:0008577 | Underfolded helix | |
| Frequent (79-30%) | ||
| HP:0000268 | Dolichocephaly | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2793
- This record as JSON: /data/d/2793.json