Upper limb defect-eye and ear abnormalities syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Upper limb defect-eye and ear abnormalities syndrome | |
| fr | Anomalies du membre supérieur, de l'oeil et de l'oreille | |
| de | Syndrom der Fehlbildungen der oberen Gliedmaßen mit Augen- und Ohranomalien | |
| es | Síndrome de defecto de las extremidades superiores-anomalías en ojos y orejas | |
| it | Anomalie degli arti superiori - deficit oculoauricolare | |
| nl | Bovenste ledemaatdefect - oog- en oorafwijkingen-syndroom | |
| pt | Síndrome de defeito nos membros superiores-anomalias nos olhos e ouvidos | |
| pl | Wada kończyny górnej - nieprawidłowości oka i ucha | |
| cs | Syndrom zahrnující defekt horních končetin a abnormality oka a ucha | |
| uk | Синдром дефекту верхніх кінцівок - аномалії очей та вух | |
| zh | 上肢缺陷-眼和耳畸形综合征 | |
| tr | Üst ekstremite defekti-göz ve kulak anormallikleri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 274205 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010125 | E | validated | |
| UMLS | C4274838 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic 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 | 2 cases | Worldwide | Case(s) | Validated | 1518028[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1518028[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0009739 | Hypoplasia of the antihelix | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0010049 | Short metacarpal | |
| HP:0009778 | Short thumb | |
| Frequent (79-30%) | ||
| HP:0000518 | Cataract | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2489
- This record as JSON: /data/d/2489.json