Xq25 microduplication syndrome
Synonyms: Dup(X)(q25) · Xq25 microtriplication
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xq25 microduplication syndrome | Dup(X)(q25) · Xq25 microtriplication |
| fr | Syndrome de microduplication Xq25 | Dup(X)(q25) · Microtriplication Xq25 |
| de | Mikroduplikationssyndrom Xq25 | Dup(X)(q25q25) · Mikrotriplikation Xq25 |
| es | Síndrome de microduplicación Xq25 | Dup(X)(q25) · Microtriplicación Xq25 |
| it | Sindrome da microduplicazione Xq25 | Dup(X)(q25) · Microtriplicazione Xq25 |
| nl | Xq25-microduplicatiesyndroom | Dup(X)(q25) · Xq25-microtriplicatie |
| pt | Síndrome de microduplicação Xq25 | |
| pl | Zespół mikroduplikacji Xq25 | Dup(X)(q25) · Mikrotriplikacja Xq25 |
| cs | Syndrom mikroduplikace Xq25 | Dup(X)(q25) |
| uk | Синдром мікродуплікації Xq25 | Dup(X)(q25) · Мікротріплікація Xq25 |
| zh | 染色体Xq25 微重复综合征 | X染色体q25微三倍体重复 |
| tr | Xq25 mikroduplikasyon sendromu | Dup(X)(q25) · Xq25 Xq25 mikrotriplikasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300979 | E | validated | |
| ICD-10 | Q98.8 | NTBT | attributed | validated |
| MONDO | 0010507 | E | validated | |
| UMLS | C5447842 | 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:263783Partial duplication of the long arm of chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAG2 | Role in the phenotype of | Assessed | HGNC:11355 | ENSG00000101972 | 300826 | Xq25 | STAG2 cohesin complex component | 25677961[PMID]_26443594[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 28 cases | Worldwide | Case(s) | Validated | 26443594[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26443594[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
20 annotations · validated 2019-05-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008050 | Abnormality of the palpebral fissures | |
| HP:0000739 | Anxiety | |
| HP:0000729 | Autistic behavior | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000286 | Epicanthus | |
| HP:0000297 | Facial hypotonia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000752 | Hyperactivity | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000272 | Malar flattening | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0045075 | Sparse eyebrow | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0004322 | Short stature | |
Annotation source: 16840569[PMID]_23637084[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/521258
- This record as JSON: /data/d/521258.json