Xp22.13p22.2 duplication syndrome
Synonyms: Dup(X)(p22) · Dup(X)(p22.13p22.2) · Duplication Xp22
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xp22.13p22.2 duplication syndrome | Dup(X)(p22) · Dup(X)(p22.13p22.2) · Duplication Xp22 |
| fr | Syndrome de duplication Xp22.13p22.2 | = en |
| de | Xp22.13p22.2-Duplikationssyndrom | Dup(X)(p22) · Dup(X)(p22.13p22.2) · Duplikation Xp22 |
| es | Síndrome de duplicación Xp22.13p22.2 | Dup(X)(p22) · Dup(X)(p22.13p22.2) · Duplicación Xp22 |
| it | Sindrome da duplicazione Xp22.13p22.2 | Dup(X)(p22) · Dup(X)(p22.13p22.2) · Duplicazione Xp22 |
| nl | Xp22.13p22.2-duplicatiesyndroom | Dup(X)(p22) · Dup(X)(p22.13p22.2) · Duplicatie Xp22 |
| pt | Síndrome de microdeleção Xp22.13p22.2 | |
| pl | Zespół duplikacji Xp22.13p22.2 | Dup(X)(p22) · Dup(X)(p22.13p22.2) · Duplikacja Xp22 |
| cs | Mikroduplikační syndrom Xp22.13p22.2 | Dup(X)(p22) · Dup(X)(p22.13p22.2) · Duplikace Xp22 |
| uk | Синдром дуплікації Xp22.13p22.2 | Dup(X)(p22) · Dup(X)(p22.13p22.2) · Дуплікація Xp22 |
| zh | Xp22.13p22.2重复综合征 | Xp22.13p22.2重复 |
| tr | Xp22.13p22.2 duplikasyon sendromu | Dup(X)(p22) · Duplikasyon Xp22 · Dup(X)(p22.13p22.2) |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD51 | NTBT | index | validated |
| MONDO | 0017284 | E | validated | |
| UMLS | C5190686 | 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: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:263775Partial duplication of the short arm of chromosome X syndrome
rare developmental anomalies during embryogenesis; 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 | <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
34 annotations · validated 2015-12-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0001999 | Abnormal facial shape | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0000455 | Broad nasal tip | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000454 | Flared nostrils | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000053 | Macroorchidism | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0000767 | Pectus excavatum | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0007164 | Slowed slurred speech | |
| HP:0200055 | Small hand | |
| HP:0008070 | Sparse hair | |
| HP:0001182 | Tapered finger | |
| HP:0001956 | Truncal obesity | |
| HP:0001537 | Umbilical hernia | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000365 | Hearing impairment | |
| HP:0009890 | High anterior hairline | |
| HP:0000540 | Hypermetropia | |
| HP:0000147 | Polycystic ovaries | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21684358[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284180
- This record as JSON: /data/d/284180.json