2q32q33 deletion syndrome
Synonyms: Del(2)(q32q33) · Monosomy 2q32q33
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare partial autosomal deletion syndrome characterized by a variable phenotype including moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. The deletion typically includes the gene <i>SATB2</i>, and patients present with the typical features of SATB2-associated syndrome, with the addition of a variable pattern of cardiovascular, genitourinary, and ectodermal congenital anomalies due to the involvement of adjacent genes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2q32q33 deletion syndrome | Del(2)(q32q33) · Monosomy 2q32q33 |
| fr | Syndrome de délétion 2q32q33 | Del(2)(q32q33) · Monosomie 2q32q33 |
| de | Mikrodeletionssyndrom 2q32q33 | Del(2)(q32q33) · Monosomie 2q32q33 |
| es | Síndrome de deleción 2q32q33 | Del(2)(q32q33) · Monosomía 2q32q33 |
| it | Sindrome da microdelezione 2q32q33 | Del(2)(q32) · Del(2)(q32q33) · Monosomia 2q32 · Monosomia 2q32-q33 · Monosomia 2q32q33 · Sindrome da microdelezione 2q32-q33 |
| nl | 2q32q33-deletiesyndroom | Del(2)(q32q33) · Monosomie 2q32q33 |
| pt | Síndrome de deleção 2q32q33 | Del(2)(q32q33) · Monossomia 2q32q33 |
| pl | Zespół mikrodelecji 2q32q33 | Del(2)(q32) · Del(2)(q32q33) · Monosomia 2q32 · Monosomia 2q32q33 · Monosomia 2q32-q33 · Zespół mikrodelecji 2q32-q33 |
| cs | Sydrom mikrodelece 2q32q33 | Syndrom mikrodelece 2q32-q33 · Del(2)(q32) · Del(2)(q32q33) · Monozomie 2q32 · Monozomie 2q32-q33 · Monozomie 2q32q33 |
| uk | Синдром мікроделеції 2q32q33 | Del(2)(q32) · Del(2)(q32q33) · Моносомія 2q32 · Моносомія 2q32q33 |
| zh | 染色体2q32q33微缺失综合征 | 2q32q33单体 |
| tr | 2q32q33 mikrodelesyon sendromu | Del (2) (q32) · Monozomi 2q32 · Del (2) (q32q33) · Monozomi 2q32q33 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612313 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.20 | NTBT | index | validated |
| MONDO | 0012864 | E | validated | |
| UMLS | C4304531 | 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 (3):
- 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:262010Partial deletion of the long arm of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SATB2 | Role in the phenotype of | Assessed | HGNC:21637 | ENSG00000119042 | 608148 | 2q33.1 | SATB homeobox 2 | 16179223[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
43 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:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000678 | Dental crowding | |
| HP:0011968 | Feeding difficulties | |
| HP:0002213 | Fine hair | |
| HP:0001510 | Growth delay | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000233 | Thin vermilion border | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000463 | Anteverted nares | |
| HP:0000739 | Anxiety | |
| HP:0001166 | Arachnodactyly | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000248 | Brachycephaly | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100024 | Conspicuously happy disposition | |
| HP:0000444 | Convex nasal ridge | |
| HP:0008734 | Decreased testicular size | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000324 | Facial asymmetry | |
| HP:0002546 | Incomprehensible speech | |
| HP:0001382 | Joint hypermobility | |
| HP:0000276 | Long face | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0000160 | Narrow mouth | |
| HP:0000677 | Oligodontia | |
| HP:0002360 | Sleep abnormality | |
| HP:0008070 | Sparse hair | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001863 | Toe clinodactyly | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251019
- This record as JSON: /data/d/251019.json