Distal 16p11.2 microdeletion syndrome
Synonyms: Distal del(16)(p11.2) · Distal monosomy 16p11.2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal 16p11.2 microdeletion syndrome | Distal del(16)(p11.2) · Distal monosomy 16p11.2 |
| fr | Syndrome de microdélétion 16p11.2 distale | Del(16)(p11.2) distale · Monosomie 16p11.2 distale |
| de | Mikrodeletionssyndrom 16p11.2, distal | Distal del(16)(p11.2) · Monosomie 16p11.2, distal |
| es | Síndrome de microdeleción terminal 16p11.2 | Del(16)(p11.2) terminal · Monosomía terminal 16p11.2 |
| it | Sindrome da microdelezione 16p11.2 distale | Del(16)(p11.2) distale · Monosomia 16p11.2 distale |
| nl | Distale 16p11.2-microdeletiesyndroom | Distale del(16)(p11.2) · Distale monosomie 16p11.2 |
| pt | Síndrome de microdeleção 16p11.2 | Monossomia distal 16p11.2 |
| pl | Zespół mikrodelecji dystalnej 16p11.2 | Dystalna del(16)(p11.2) · Monosomia dystalna 16p11.2 |
| cs | Syndom distální mikrodelece 16p11.2 | Distální del(16)(p11.2) · Distální monozomie 16p11.2 |
| uk | Синдром дистальної мікроделеції 16p11.2 | Дистальний del(16)(p11.2) · Дистальна моносомія 16p11.2 |
| zh | 远端染色体16p11.2微缺失综合征 | 16p11.2远端单体 |
| tr | Distal 16p11.2 mikrodelesyon sendromu | Distal del (16) (p11.2) · Distal monozomi 16p11.2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613444 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.G1 | NTBT | attributed | validated |
| MONDO | 0013267 | E | validated | |
| UMLS | C4518824 | 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:261956Partial deletion of the short arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SH2B1 | Role in the phenotype of | Assessed | HGNC:30417 | ENSG00000178188 | 608937 | 16p11.2 | SH2B adaptor protein 1 |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
26 annotations · validated 2016-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0000294 | Low anterior hairline | |
| HP:0000160 | Narrow mouth | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000300 | Oval face | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000556 | Retinal dystrophy | |
| HP:0000510 | Rod-cone dystrophy | |
| Frequent (79-30%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0000729 | Autistic behavior | |
| HP:0012450 | Chronic constipation | |
| HP:0012622 | Chronic kidney disease | |
| HP:0002149 | Hyperuricemia | |
| HP:0001249 | Intellectual disability | |
| HP:0011351 | Moderate receptive language delay | |
| HP:0001513 | Obesity | |
| HP:0000093 | Proteinuria | |
| HP:0000104 | Renal agenesis | |
| HP:0001250 | Seizure | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0002808 | Kyphosis | |
| HP:0002076 | Migraine | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 19755429[PMID]_19966786[PMID]_19079260[PMID]_20799338[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261222
- This record as JSON: /data/d/261222.json