7q11.23 microduplication syndrome
Synonyms: Dup(7)(q11.23) · Trisomy 7q11.23
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild to moderate intellectual disability (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 7q11.23 microduplication syndrome | Dup(7)(q11.23) · Trisomy 7q11.23 |
| fr | Syndrome de microduplication 7q11.23 | Dup(7)(q11.23) · Trisomie 7q11.23 |
| de | Mikroduplikationssyndrom 7q11.23 | Dup(7)(q11.23) · Trisomie 7q11.23 |
| es | Síndrome de microduplicación 7q11.23 | Dup(7)(q11.23) · Trisomía 7q11.23 |
| it | Sindrome da microduplicazione 7q11.23 | Dup(7)(q11.23) · Trisomia 7q11.23 |
| nl | 7q11.23-microduplicatiesyndroom | Dup(7)(q11.23) · Trisomie 7q11.23 |
| pt | Síndrome de microduplicação 7q11.23 | Trissomia 7q11.23 |
| pl | Zespół mikroduplikacji 7q11.23 | Dup(7)(q11.23) · Trisomia 7q11.23 |
| cs | Mikroduplikační syndrom 7q11.23 | Dup(7)(q11.23) · Trizomie 7q11.23 |
| uk | Синдром мікродуплікації 7q11.23 | Dup(7)(q11.23) · Трисомія 7q11.23 |
| zh | 7q11.23微重复综合征 | 7q11.24三体 |
| tr | 7q11.23 mikroduplikasyon sendromu | Dup (7) (q11.23) · Trizomi 7q11.23 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609757 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.60 | NTBT | index | validated |
| MONDO | 0012342 | E | validated | |
| UMLS | C4512054 | E | validated | |
| GARD | 12076 | 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:262887Partial duplication of the long arm of chromosome 7 syndrome
rare developmental anomalies during embryogenesis; rare genetic 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 | 163 cases | Worldwide | Case(s) | Validated | 27617154[PMID] | |
| Point prevalence | 1-9 / 100 000 | 8 / 100 000 | Worldwide | Value and class | Validated | ORPHANET_27617154[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
95 annotations · validated 2017-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| Frequent (79-30%) | ||
| HP:0009929 | Abnormal columella morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0000739 | Anxiety | |
| HP:0004942 | Aortic aneurysm | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0000455 | Broad nasal tip | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0012450 | Chronic constipation | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001363 | Craniosynostosis | |
| HP:0000490 | Deeply set eye | |
| HP:0000689 | Dental malocclusion | |
| HP:0000699 | Diastema | |
| HP:0000268 | Dolichocephaly | |
| HP:0001310 | Dysmetria | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000218 | High palate | |
| HP:0000752 | Hyperactivity | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000527 | Long eyelashes | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0001270 | Motor delay | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000278 | Retrognathia | |
| HP:0000322 | Short philtrum | |
| HP:0009879 | Simplified gyral pattern | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002317 | Unsteady gait | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000718 | Aggressive behavior | |
| HP:0011333 | Asymmetric crying face | |
| HP:0000753 | Autism with high cognitive abilities | |
| HP:0000389 | Chronic otitis media | |
| HP:0000028 | Cryptorchidism | |
| HP:0000965 | Cutis marmorata | |
| HP:0002307 | Drooling | |
| HP:0000565 | Esotropia | |
| HP:0001510 | Growth delay | |
| HP:0000348 | High forehead | |
| HP:0011228 | Horizontal eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0000023 | Inguinal hernia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001382 | Joint hypermobility | |
| HP:0009748 | Large earlobe | |
| HP:0002300 | Mutism | |
| HP:0001513 | Obesity | |
| HP:0000396 | Overfolded helix | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002591 | Polyphagia | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0001250 | Seizure | |
| HP:0000200 | Short lingual frenulum | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0004768 | Sparse anterior scalp hair | |
| HP:0000233 | Thin vermilion border | |
| Very rare (<4-1%) | ||
| HP:0012795 | Abnormality of the optic disc | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0008655 | Aplasia/Hypoplasia of the fallopian tube | |
| HP:0008684 | Aplasia/hypoplasia of the uterus | |
| HP:0000483 | Astigmatism | |
| HP:0001631 | Atrial septal defect | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0030212 | Collectionism | |
| HP:0002967 | Cubitus valgus | |
| HP:0000805 | Enuresis | |
| HP:0000577 | Exotropia | |
| HP:0000365 | Hearing impairment | |
| HP:0002937 | Hemivertebrae | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0000047 | Hypospadias | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0100807 | Long fingers | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0000311 | Round face | |
| HP:0000960 | Sacral dimple | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
| HP:0002779 | Tracheomalacia | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 27617154[PMID]_27615053[PMID]_16236740[PMID]_25428557[PMID]_26333794[PMID]_25900101[PMID]_24722762[PMID]_18337728[PMID]_17400790[PMID]_17666889[PMID]_19249392[PMID]_NBK327268[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96121
- This record as JSON: /data/d/96121.json