16p13.11 microdeletion syndrome
Synonyms: Del(16)(p13.11) · Monosomy 16p13.11
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare partial deletion of the short arm of chromosome 16 syndrome characterized by global developmental, motor and language delay, epilepsy, neuropsychiatric and behavioral problems, microcephaly, short stature, dysmorphic features (that may include brachycephaly, hypertelorism, epicanthus, down-slanting palpebral fissures, short nose, low-set ears, cleft palate, wide mouth and thin upper lip) and congenital heart defects. Additional clinical features may include gastroesophageal reflux, pectus excavatum, torticollis, ligamentous hyperlaxity, obesity, body temperature instability, syndactyly, cryptorchidism, micropenis, and hypospadias.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 16p13.11 microdeletion syndrome | Del(16)(p13.11) · Monosomy 16p13.11 |
| fr | Syndrome de microdélétion 16p13.11 | Del(16)(p13.11) · Monosomie 16p13.11 |
| de | Mikrodeletionssyndrom 16p13.11 | Del(16)(p13.11) · Monosomie 16p13.11 |
| es | Síndrome de microdeleción 16p13.11 | Del(16)(p13.11) · Monosomía 16p13.11 |
| it | Sindrome da microdelezione 16p13.11 | Del(16)(p13.11) · Monosomia 16p13.11 |
| nl | 16p13.11-microdeletiesyndroom | Del(16)(p13.11) · Monosomie 16p13.11 |
| pt | Síndrome de microdeleção 16p13.1 | |
| pl | Zespół mikrodelecji 16p13.11 | Del(16)(p13.11) · Monosomia 16p13.11 |
| cs | Syndrom mikrodelece 16p13.11 | Del(16)(p13.11) · Monozomie 16p13.11 |
| uk | Синдром мікроделеції 16p13.11 | Del(16)(p13.11) · Моносомія 16p13.11 |
| zh | 染色体16p13.11微缺失综合征 | 16p13.11单体 |
| tr | 16p13.11 mikrodelesyon sendromu | Del (16) (p13.11) · Monozomi 16p13.11 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.G1 | NTBT | index | validated |
| MONDO | 0016836 | E | validated | |
| UMLS | C4304596 | 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:261956Partial deletion of the short arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7 / 100 000 | Worldwide | Value and class | Not yet validated | 24105370[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET_23637818[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.
HPO phenotypes
40 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0000252 | Microcephaly | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0001631 | Atrial septal defect | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000028 | Cryptorchidism | |
| HP:0009914 | Cyclopia | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002353 | EEG abnormality | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001360 | Holoprosencephaly | |
| HP:0001276 | Hypertonia | |
| HP:0000369 | Low-set ears | |
| HP:0010508 | Metatarsus valgus | |
| HP:0000767 | Pectus excavatum | |
| HP:0000384 | Preauricular skin tag | |
| HP:0100753 | Schizophrenia | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000319 | Smooth philtrum | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000154 | Wide mouth | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 21315189[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261236
- This record as JSON: /data/d/261236.json