8p inverted duplication/deletion syndrome
Synonyms: Invdupdel(8p) · Inverted 8p duplication/deletion syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 8p inverted duplication/deletion syndrome | Invdupdel(8p) · Inverted 8p duplication/deletion syndrome |
| fr | Syndrome de duplication/délétion inversée 8p | Invdupdel(8p) |
| de | 8p-Invertierte Duplikation/Deletion-Syndrom | Invdupdel(8p) · Invertierte Duplikation/Deletion 8p |
| es | Síndrome de duplicación/deleción invertida 8p | Invdupdel(8p) · Síndrome de duplicación/deleción 8p invertida |
| it | Sindrome da delezione/duplicazione invertita 8p | Invdupdel(8p) · Sindrome da delezione/duplicazione 8p invertita |
| nl | 8p geïnverteerde duplicatie/deletie-syndroom | Geïnverteerde 8p-duplicatie/deletie-syndroom · Invdupdel(8p) |
| pt | Duplicação invertida/deleção de 8p | |
| pl | Zespół odwróconej duplikacji/delecji 8p | Invdupdel(8p) · Zespół odwróconej duplikacji/delecji 8p |
| cs | Syndrom invertované duplikace/delece 8p | Invdupdel(8p) |
| uk | Синдром інвертованої дуплікації/делеції 8p | Invdupdel(8p) · Синдром інвертованої 8p дуплікації/делеції |
| zh | 8号染色体短臂倒转复制/缺失综合征 | 倒转8号染色体短臂重复/缺失综合征 |
| tr | 8p invert duplikasyon / delesyon sendromu | Invdupdel (8p) · Ters 8p duplikasyon / delesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD41.P | NTBT | index | validated |
| MONDO | 0019876 | E | validated | |
| UMLS | C4273676 | 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:263708Complex chromosomal rearrangement syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.9 / 100 000 | Italy | Value and class | Validated | 11231899[PMID] |
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | [EXPERT]_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
56 annotations · validated 2016-04-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0000463 | Anteverted nares | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0008947 | Floppy infant | |
| HP:0002292 | Frontal balding | |
| HP:0001263 | Global developmental delay | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000400 | Macrotia | |
| HP:0000767 | Pectus excavatum | |
| HP:0011220 | Prominent forehead | |
| HP:0011344 | Severe global developmental delay | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000729 | Autistic behavior | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100710 | Impulsivity | |
| HP:0100807 | Long fingers | |
| HP:0000343 | Long philtrum | |
| HP:0005656 | Positional foot deformity | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0000311 | Round face | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0006292 | Abnormality of dental eruption | |
| HP:0011466 | Aplasia/Hypoplasia of the gallbladder | |
| HP:0000592 | Blue sclerae | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0005781 | Contractures of the large joints | |
| HP:0000028 | Cryptorchidism | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0001651 | Dextrocardia | |
| HP:0002705 | High, narrow palate | |
| HP:0002827 | Hip dislocation | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000826 | Precocious puberty | |
| HP:0000278 | Retrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0010487 | Small hypothenar eminence | |
| HP:0000664 | Synophrys | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 610424[PMID]_8256810[PMID]_10869109[PMID]_12920085[PMID]_16773506[PMID]_21259039[PMID]_24502041[PMID]_8599364[PMID]_www.rarechromo.org/information/Chromosome%20%208/8p%20duplications%20FTNW.pdf[OTHER]_20880309[PMID]_12225557[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96092
- This record as JSON: /data/d/96092.json