ORPHA:96125
Distal deletion 6p syndrome
Synonyms: 6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome · Distal deletion 6p25 · Monosomy 6p25 · Monosomy 6pter
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 6p syndrome | 6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome · Distal deletion 6p25 · Monosomy 6p25 · Monosomy 6pter |
| fr | Syndrome de délétion distale 6p | Délétion distale 6p25 · Monosomie 6p25 · Monosomie 6pter · Monosomie distale 6p · Syndrome de délétion subtélomérique 6p · Syndrome de microdélétion 6p25 |
| de | Distale Deletion 6p | 6p subtelomeres Deletionssyndrom · Deletion 6p, distale · Distale Deletion 6p25 · Mikrodeletionssyndrom 6p25 · Monosomie 6p25 · Monosomie 6pter |
| es | Síndrome de deleción terminal 6p | Deleción terminal 6p25 · Monosomía 6p25 · Monosomía 6pter · Síndrome de deleción subtelomérica 6p · Síndrome de microdeleción 6p25 |
| it | Sindrome delezione 6p distale | Delezione 6p25 distale · Monosomia 6p25 · Monosomia 6pter · Sindrome da delezione 6p subtelomerica · Sindrome da microdelezione 6p25 |
| nl | Distale deletie 6p-syndroom | 6p25-microdeletiesyndroom · Distale deletie 6p25 · Monosomie 6p25 · Monosomie 6pter · Subtelomerische 6p-deletiesyndroom |
| pt | Deleção distal 6p | Deleção distal 6p25 · Monossomia 6p25 · Monossomia 6pter · Síndrome de deleção subtelomérica 6p · Síndrome de microdeleção 6p25 |
| pl | Zespół delecji dystalnej 6p | Delecja dystalna 6p · Monosomia 6p25 · Zespół delecji subtelomerowej 6p · Zespół mikrodelecji 6p25 · Delecja telomerowa 6p |
| cs | Distální monozomie 6p | Syndrom subtelomerické delece 6p · Distální delece 6p · Monozomie 6p25 · Mikrodeleční syndrom 6p25 |
| uk | Дистальна делеція 6p | Синдром субтеломерної делеції 6p · Синдром мікроделеції 6p25 · Дистальна делеція 6p25 · Моносомія 6p25 · Моносомія 6pter |
| zh | 6号染色体短臂远端单体 | 6号染色体短臂亚端粒微缺失综合征 |
| tr | Distal monozomi 6p | Monozomi 6p25 · Distal delesyon 6p · 6p25 mikrodelesyon sendromu · 6p subtelomerik delesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612582 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.61 | NTBT | index | validated |
| MONDO | 0012948 | E | validated | |
| MONDO | 12948 | E | validated | |
| UMLS | C4305276 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - 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:261902Partial deletion of the short arm of chromosome 6 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 23686687[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.
6
HPO phenotypes
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000593 | Abnormal anterior chamber morphology | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000369 | Low-set ears | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0011483 | Anterior synechiae of the anterior chamber | |
| HP:0000463 | Anteverted nares | |
| HP:0001631 | Atrial septal defect | |
| HP:0000337 | Broad forehead | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0007957 | Corneal opacity | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0000501 | Glaucoma | |
| HP:0000365 | Hearing impairment | |
| HP:0008499 | High hypermetropia | |
| HP:0007676 | Hypoplasia of the iris | |
| HP:0000272 | Malar flattening | |
| HP:0000627 | Posterior embryotoxon | |
| HP:0000322 | Short philtrum | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0009918 | Ectopia pupillae | |
| HP:0000347 | Micrognathia | |
| HP:0000202 | Orofacial cleft | |
| HP:0002650 | Scoliosis | |
| HP:0100716 | Self-injurious behavior | |
| HP:0001773 | Short foot | |
| HP:0004279 | Short palm | |
| HP:0001762 | Talipes equinovarus | |
| HP:0002119 | Ventriculomegaly | |
| HP:0003422 | Vertebral segmentation defect | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25817395[PMID]_15578619[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96125
- This record as JSON: /data/d/96125.json