Non-distal deletion 10q syndrome
Synonyms: Non-distal monosomy 10q · Non-telomeric monosomy 10q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-distal deletion 10q syndrome | Non-distal monosomy 10q · Non-telomeric monosomy 10q |
| fr | Syndrome de délétion non distale 10q | Délétion non télomérique 10q · Monosomie non distale 10q · Monosomie non télomérique 10q |
| de | Nicht-distale Deletion 10q | Deletion 10q, nicht-distale · Nicht-distale Monosomie 10q · Nicht-telomere Monosomie 10q |
| es | Síndrome de deleción intersticial 10q | Monosomía intersticial 10q · Monosomía no terminal 10q |
| it | Sindrome delezione 10q non distale | Monosomia 10q non distale · Monosomia 10q non telomerica |
| nl | Niet-distale deletie 10q-syndroom | Niet-distale monosomie 10q · Niet-telomerische monosomie 10q |
| pt | Deleção não-distal 10q | Deleção não-distal 10q · Monossomia não-distal 10q · Monossomia não-telomérica 10q |
| pl | Zespół delecji nietelomerowej 10q | Interstycjalna delecja 10q · Nietelomerowa monosomia 10q · Nietelomerowa delecja 10q |
| cs | Non-distální monozomie 10q | Non-distální delece 10q · Non-telomerická monozomie 10q |
| uk | Недистальна делеція 10q | Недистальна моносомія 10q · Нетеломерна моносомія 10q |
| zh | 10号染色体长臂非远端单体 | 10号染色体长臂非末端着丝粒单体 |
| tr | Distal olmayan monozomi 10q | Distal olmayan delesyon 10q · Telomerik olmayan monozomi 10q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.A0 | NTBT | index | validated |
| MONDO | 0015546 | E | validated | |
| UMLS | C4749375 | 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 (3):
- ORPHA:262083Partial deletion of the long arm of chromosome 10 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Not yet documented | — | 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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0100543 | Cognitive impairment | |
| HP:0000286 | Epicanthus | |
| HP:0001288 | Gait disturbance | |
| HP:0001252 | Hypotonia | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0004422 | Biparietal narrowing | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0010557 | Overlapping fingers | |
| HP:0000508 | Ptosis | |
| HP:0000664 | Synophrys | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1581
- This record as JSON: /data/d/1581.json