13q12.3 microdeletion syndrome
Synonyms: Del(13)(q12.3) · Monosomy 13q12.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 13q12.3 microdeletion syndrome | Del(13)(q12.3) · Monosomy 13q12.3 |
| fr | Syndrome de microdélétion 13q12.3 | Del(13)(q12.3) · Monosomie 13q12.3 |
| de | Mikrodeletionssyndrom 13q12.3 | Del(13)(q12.3) · Monosomie 13q12.3 |
| es | Síndrome de microdeleción 13q12.3 | Del(13)(q12.3) · Monosomía 13q12.3 |
| it | Sindrome da microdelezione 13q12.3 | Del(13)(q12.3) · Monosomia 13q12.3 |
| nl | 13q12.3-microdeletiesyndroom | Del(13)(q12.3) · Monosomie 13q12.3 |
| pt | Síndrome de microdeleção 13q12.3 | |
| pl | Zespół mikrodelecji 13q12.3 | Del(13)(q12.3) · Monosomia 13q12.3 |
| cs | Mikrodeleční syndrom 13q12.3 | Del(13)(q12.3) · Monozomie 13q12.3 |
| uk | Синдром мікроделеції 13q12.3 | Del(13)(q12.3) · Моносомія 13q12.3 |
| zh | 13q12.3微缺失综合征 | 13q12.3单体 |
| tr | 13q12.3 mikrodelesyon sendromu | Del(13)(q12.3) · Monozomi 13q12.3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0018474 | E | validated | |
| UMLS | C4750951 | 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 (4):
- 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:79359Other epidermal disorder
rare skin diseases - ORPHA:262101Partial deletion of the long arm of chromosome 13 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 |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24664804[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24664804[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
30 annotations · validated 2019-12-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001047 | Atopic dermatitis | |
| HP:0012385 | Camptodactyly | |
| HP:0002019 | Constipation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0000752 | Hyperactivity | |
| HP:0000540 | Hypermetropia | |
| HP:0007328 | Impaired pain sensation | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0010763 | Low insertion of columella | |
| HP:0000272 | Malar flattening | |
| HP:0000677 | Oligodontia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000742 | Self-mutilation | |
| HP:0004322 | Short stature | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0012724 | Upper eyelid edema | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0012393 | Allergy | |
| HP:0000389 | Chronic otitis media | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000365 | Hearing impairment | |
| HP:0200053 | Hemihypotrophy of lower limb | |
| HP:0001385 | Hip dysplasia | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001513 | Obesity | |
| HP:0002870 | Obstructive sleep apnea | |
Annotation source: 24664804[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/412035
- This record as JSON: /data/d/412035.json