Distal deletion 10p syndrome
Synonyms: Distal monosomy 10p · Monosomy 10pter · Telomeric deletion 10p
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Not applicable, Unknown
- Age of onset
- Childhood
- Status
- active
Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 10p syndrome | Distal monosomy 10p · Monosomy 10pter · Telomeric deletion 10p |
| fr | Syndrome de délétion distale 10p | Délétion 10pter · Délétion télomérique 10p · Monosomie 10pter · Monosomie distale 10p |
| de | Distale Deletion 10p | Distale Monosomie 10p · Monosomie 10pter · Telomere Deletion 10p |
| es | Síndrome de deleción terminal 10p | Monosomía 10pter · Monosomía terminal 10p |
| it | Sindrome delezione 10p distale | Delezione 10p telomerica · Monosomia 10p distale · Monosomia 10pter |
| nl | Distale deletie 10p-syndroom | Distale monosomie 10p · Monosomie 10pter · Telomerische deletie 10p |
| pt | Síndrome de deleção distal 10p | Deleção telomérica 10p · Monossomia 10pter · Monossomia distal 10p |
| pl | Zespół delecji dystalnej 10p | Dystalna delecja 10p · Monosomia 10pter · Telomerowa delecja 10p |
| cs | Distální monozomie 10p | Distální 10p delece · Monozomie 10pter · Telomerická delece 10p |
| uk | Дистальна делеція 10p | Дистальна моносомія 10p · Моносомія 10pter · Теломерна делеція 10p |
| zh | 10号染色体短臂远端单体 | 10号染色体长臂末端着丝粒缺失 |
| tr | Distal monozomi 10p | Monozomi 10pter · Distal 10p delesyonu · Telomerik delesyon 10p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.A1 | NTBT | index | validated |
| MONDO | 0011055 | E | validated | |
| MONDO | 11055 | E | validated | |
| UMLS | C4304502 | E | validated | |
| GARD | 1323 | 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 (1):
- ORPHA:261938Partial deletion of the short arm of chromosome 10 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000444 | Convex nasal ridge | |
| HP:0000028 | Cryptorchidism | |
| HP:0001249 | Intellectual disability | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000364 | Hearing abnormality | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0002023 | Anal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0004397 | Ectopic anus | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001387 | Joint stiffness | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000147 | Polycystic ovaries | |
| HP:0000465 | Webbed neck | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1580
- This record as JSON: /data/d/1580.json