Distal Xq28 microduplication syndrome
Synonyms: Distal dup(X)q(28) · Distal trisomy Xq28 · Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndromic X-linked intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, obesity, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal Xq28 microduplication syndrome | Distal dup(X)q(28) · Distal trisomy Xq28 · Int22h1/Int22h2 mediated-Xq28 microduplication syndrome |
| fr | Syndrome de microduplication Xq28 distale | Dup(X)q(28) distale · Syndrome de microduplication Xq28 à médiation Int22h1/Int22h2 · Trisomie Xq28 distale |
| de | Mikroduplikationssyndrom Xq28, distal | Dup(X)q(28), distal · Int22h1/Int22h2-vermitteltes Mikroduplikationssyndrom Xq28 · Trisomie Xq28, distale |
| es | Síndrome de microduplicación Xq28 terminal | Dup(X)q(28) terminal · Síndrome de microduplicación Xq28 mediado por Int22h1/Int22h2 · Trisomía terminal Xq29 |
| it | Sindrome da microduplicazione Xq28 distale | Dup(X)q(28) distale · Sindrome da microduplicazione Xq28 mediata da Int22h1/Int22h2 · Trisomia Xq28 distale |
| nl | Distale Xq28-microduplicatiesyndroom | Distale Dup(X)q(28) · Distale trisomie Xq28 · Int22h1/Int22h2-gemedieerde Xq28-microduplicatiesyndroom |
| pt | Síndrome de microduplicação distal Xq28 | Trissomia distal Xq28 |
| pl | Zespół mikroduplikacji dystalnej Xq28 | Dystalna dup(X)q(28) · Trisomia dystalna Xq28 |
| cs | Distální mikroduplikační syndrom Xq28 | Distální dup(X)q(28) · Distální trizomie Xq28 |
| uk | Синдром дистальної мікродуплікації Xq28 | Дистальна dup(X)q(28) · Дистальна трисомія Xq28 · Синдром мікродуплікації Xq28, опосередкований Int22h1/Int22h2 |
| zh | Xq28远端微重复综合征 | Xq28远端三体 |
| tr | Distal Xq28 mikroduplikasyon sendromu | Distal dup(X)q(28) · Distal triszomi Xq28 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300815 | NTBT | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| MONDO | 0017404 | E | validated | |
| UMLS | C4751127 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 | 9 cases | Worldwide | Case(s) | Validated | 21984752[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
43 annotations · validated 2015-12-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011730 | Abnormality of central sensory function | |
| HP:0011234 | Absent antihelix | |
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0002829 | Arthralgia | |
| HP:0002099 | Asthma | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:0000455 | Broad nasal tip | |
| HP:0000490 | Deeply set eye | |
| HP:0010862 | Delayed fine motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000678 | Dental crowding | |
| HP:0000716 | Depression | |
| HP:0000421 | Epistaxis | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0100710 | Impulsivity | |
| HP:0001249 | Intellectual disability | |
| HP:0001840 | Metatarsus adductus | |
| HP:0000252 | Microcephaly | |
| HP:0008551 | Microtia | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0000194 | Open mouth | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0000817 | Reduced eye contact | |
| HP:0000200 | Short lingual frenulum | |
| HP:0004322 | Short stature | |
| HP:0012172 | Stereotypical body rocking | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0030051 | Tip-toe gait | |
| HP:0012724 | Upper eyelid edema | |
| Frequent (79-30%) | ||
| HP:0030084 | Clinodactyly | |
| HP:0003550 | Predominantly lower limb lymphedema | |
| HP:0012169 | Self-biting | |
| Occasional (29-5%) | ||
| HP:0000957 | Cafe-au-lait spot | |
| HP:0000821 | Hypothyroidism | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21984752[PMID]_18047645[PMID]_20004760[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293939
- This record as JSON: /data/d/293939.json