ORPHA:261197
Proximal 16p11.2 microdeletion syndrome
Synonyms: Proximal del(16)(p11.2) · Proximal monosomy 16p11.2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal 16p11.2 microdeletion syndrome | Proximal del(16)(p11.2) · Proximal monosomy 16p11.2 |
| fr | Syndrome de microdélétion 16p11.2 proximale | Del(16)(p11.2) proximale · Monosomie 16p11.2 proximale |
| de | Mikrodeletionssyndrom 16p11.2, proximales | Del(16)(p11.2) · Monosomie 16p11.2 |
| es | Síndrome de microdeleción proximal 16p11.2 | Del(16)(p11.2) proximal · Monosomía proximal 16p11.2 |
| it | Sindrome da microdelezione 16p11.2 prossimale | Del(16)(p11.2) prossimale · Monosomia 16p11.2 prossimale |
| nl | Proximale 16p11.2-microdeletiesyndroom | Proximale Del(16)(p11.2) · Proximale monosomie 16p11.2 |
| pt | Síndrome de microdeleção proximal 16p11.2 | |
| pl | Zespół mikrodelecji proksymalnej 16p11.2 | Monosomia proksymalna 16p11.2 · Proksymalna del(16)(p11.2) |
| cs | Syndrom proximální mikrodelece 16p11.2 | Proximální del(16)(p11.2) · Proximální monozomie 16p11.2 |
| uk | Синдром проксимальної мікроделеції 16p11.2 | Proximal del(16)(p11.2) · Проксимальна моносомія 16p11.2 |
| zh | 近端染色体16p11.2微缺失综合征 | 16p11.2近端单体 |
| tr | Proksimal 16p11.2 mikrodelesyon sendromu | Proksimal del (16) (p11.2) · Proksimal monozomi 16p11.2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611913 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.G1 | NTBT | index | validated |
| MONDO | 0012756 | E | validated | |
| UMLS | C4273657 | E | validated | |
| GARD | 10740 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:261956Partial deletion of the short arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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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 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Validated | 19306953[PMID]_[EXPERT] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | United States | Value and class | Validated | 21731881[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.
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HPO phenotypes
52 annotations · validated 2021-05-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001249 | Intellectual disability | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000256 | Macrocephaly | |
| HP:0011351 | Moderate receptive language delay | |
| HP:0001270 | Motor delay | |
| HP:0006863 | Severe expressive language delay | |
| HP:0001328 | Specific learning disability | |
| HP:0009088 | Speech articulation difficulties | |
| Occasional (29-5%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0100702 | Arachnoid cyst | |
| HP:0001631 | Atrial septal defect | |
| HP:0000717 | Autism | |
| HP:0000337 | Broad forehead | |
| HP:0007099 | Chiari type I malformation | |
| HP:0001266 | Choreoathetosis | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001332 | Dystonia | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000316 | Hypertelorism | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0001513 | Obesity | |
| HP:0007166 | Paroxysmal dyskinesia | |
| HP:0002691 | Platybasia | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0011098 | Speech apraxia | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001363 | Craniosynostosis | |
| HP:0001651 | Dextrocardia | |
| HP:0001161 | Hand polydactyly | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000902 | Rib fusion | |
| HP:0003396 | Syringomyelia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301775[PMID]_29636920[PMID]_19914906[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261197
- This record as JSON: /data/d/261197.json