6q terminal deletion syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 6q terminal deletion syndrome | |
| fr | Syndrome de délétion 6q terminale | |
| de | Terminales 6q-Deletion-Syndrom | |
| es | Síndrome de deleción terminal 6q | |
| it | Sindrome da delezione 6q terminale | |
| nl | Terminale 6q-deletiesyndroom | |
| pt | Deleção terminal 6q | |
| pl | Zespół delecji terminalnej 6q | |
| cs | 6q terminální deleční syndrom | |
| uk | Синдром термінальної делеції 6q | |
| zh | 6号染色体长臂末端缺失综合征 | |
| tr | 6q terminal delesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.60 | NTBT | index | validated |
| MONDO | 0019164 | E | validated | |
| UMLS | C4304514 | 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:262047Partial deletion of the long arm of chromosome 6 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERMARD | Role in the phenotype of | Assessed | HGNC:21056 | ENSG00000130023 | 615532 | 6q27 | ER membrane associated RNA degradation | 24056535[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 16329114[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
49 annotations · validated 2016-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0002538 | Abnormality of the cerebral cortex | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0030048 | Colpocephaly | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000294 | Low anterior hairline | |
| HP:0000347 | Micrognathia | |
| HP:0007165 | Periventricular heterotopia | |
| HP:0002126 | Polymicrogyria | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0001310 | Dysmetria | |
| HP:0002066 | Gait ataxia | |
| HP:0000540 | Hypermetropia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000639 | Nystagmus | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0006712 | Aplasia/Hypoplasia of the ribs | |
| HP:0000289 | Broad philtrum | |
| HP:0030084 | Clinodactyly | |
| HP:0000268 | Dolichocephaly | |
| HP:0000771 | Gynecomastia | |
| HP:0001822 | Hallux valgus | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000047 | Hypospadias | |
| HP:0000256 | Macrocephaly | |
| HP:0001513 | Obesity | |
| HP:0001741 | Phimosis | |
| HP:0001357 | Plagiocephaly | |
| HP:0011220 | Prominent forehead | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001884 | Talipes calcaneovalgus | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24056535[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75857
- This record as JSON: /data/d/75857.json