Xq12-q13.3 duplication syndrome
Synonyms: Dup(X)(q12-q13.3) · Kaya-Prontera syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xq12-q13.3 duplication syndrome | Dup(X)(q12-q13.3) · Kaya-Prontera syndrome |
| fr | Syndrome de duplication Xq12-q13.3 | Dup(X)(q12-q13.3) · Syndrome de Kaya-Prontera |
| de | Duplikations-Syndrom Xq12-q13.3 | Dup(X)(q12-q13.3) · Kaya-Prontera-Syndrom |
| es | Síndrome de duplicación Xq12-q13.3 | Dup(X)(q12-q13.3) · Síndrome de Kaya-Prontera |
| it | Sindrome da duplicazione Xq12-q13.3 | Dup(X)(q12-q13.3) · Sindrome di Kaya-Prontera |
| nl | Xq12-q13.3-duplicatiesyndroom | Dup(X)(q12-q13.3) · Syndroom van Kaya-Prontera |
| pt | Síndrome de duplicação Xq12-q13.3 | Dup(X)(q12-q13.3) · Síndrome Kaya-Prontera |
| pl | Zespół duplikacji Xq12-q13.3 | Dup(X)(q12-q13.3) |
| cs | Duplikační syndrom Xq12-q13.3 | Dup(X)(q12-q13.3) |
| uk | Синдром дуплікації Xq12-q13.3 | Dup(X)(q12-q13.3) · Синдром Кайя-Пронтера |
| zh | Xq12-q13.3重复综合征 | Xq12-q13.3重复 |
| tr | Xq12-q13.3 duplikasyon sendromu | Dup(X)(q12-q13.3) |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| MONDO | 0017794 | E | validated | |
| UMLS | C4707094 | 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 (2):
- ORPHA:263783Partial duplication of the long arm of chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:180772Rare disease with autism
rare genetic diseases; rare neurological 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 | 3 cases | Worldwide | Case(s) | Validated | 22213401[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
37 annotations · validated 2015-12-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0000713 | Agitation | |
| HP:0009908 | Anterior creases of earlobe | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0100739 | Bulimia | |
| HP:0011265 | Cleft earlobe | |
| HP:0000028 | Cryptorchidism | |
| HP:0010554 | Cutaneous finger syndactyly | |
| HP:0003282 | Decreased circulating alkaline phosphatase activity | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0000750 | Delayed speech and language development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0007328 | Impaired pain sensation | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0001054 | Numerous nevi | |
| HP:0000543 | Optic disc pallor | |
| HP:0000767 | Pectus excavatum | |
| HP:0004322 | Short stature | |
| HP:0000325 | Triangular face | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22213401[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314389
- This record as JSON: /data/d/314389.json