ORPHA:251014
2q31.1 microdeletion syndrome
Synonyms: Del(2)(q31.1) · Monosomy 2q31.1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2q31.1 microdeletion syndrome | Del(2)(q31.1) · Monosomy 2q31.1 |
| fr | Syndrome de microdélétion 2q31.1 | Del(2)(q31.1) · Monosomie 2q31.1 |
| de | Mikrodeletionssyndrom 2q31.1 | Del(2)(q31.1) · Monosomie 2q31.1 |
| es | Síndrome de microdeleción 2q31.1 | Del(2)(q31.1) · Monosomía 2q31.1 |
| it | Sindrome da microdelezione 2q31.1 | Del(2)(q31.1) · Monosomia 2q31.1 |
| nl | 2q31.1-microdeletiesyndroom | Del(2)(q31.1) · Monosomie 2q31.1 |
| pt | Síndrome de microdeleção 2q31.1 | Monossomia 2q31.1 |
| pl | Zespół mikrodelecji 2q31.1 | Del(2)(q31.1) · Monosomia 2q31.1 |
| cs | Syndrom mikrodelece 2q31.1 | Del(2)(q31.1) · Monosomie 2q31.1 |
| uk | Синдром мікроделеції 2q31.1 | Del(2)(q31.1) · Моносомія 2q31.1 |
| zh | 染色体2q31.1微缺失综合征 | 2q31.1单体 |
| tr | 2q31.1 mikrodelesyon sendromu | Del (2) (q31.1) · Monozomi 2q31.1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.20 | NTBT | index | validated |
| MONDO | 0016652 | E | validated | |
| UMLS | C4274647 | 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:262010Partial deletion of the long arm of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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.
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HPO phenotypes
63 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001595 | Abnormality of the hair | |
| HP:0001156 | Brachydactyly | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0000414 | Bulbous nose | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002002 | Deep philtrum | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001252 | Hypotonia | |
| HP:0002463 | Language impairment | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0001852 | Sandal gap | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0012745 | Short palpebral fissure | |
| HP:0004322 | Short stature | |
| HP:0001182 | Tapered finger | |
| HP:0001770 | Toe syndactyly | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000175 | Cleft palate | |
| HP:0000280 | Coarse facial features | |
| HP:0000589 | Coloboma | |
| HP:0000028 | Cryptorchidism | |
| HP:0100257 | Ectrodactyly | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000324 | Facial asymmetry | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000612 | Iris coloboma | |
| HP:0002808 | Kyphosis | |
| HP:0000294 | Low anterior hairline | |
| HP:0000568 | Microphthalmia | |
| HP:0000275 | Narrow face | |
| HP:0000588 | Optic disc coloboma | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0001773 | Short foot | |
| HP:0004279 | Short palm | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| HP:0000233 | Thin vermilion border | |
| HP:0000243 | Trigonocephaly | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251014
- This record as JSON: /data/d/251014.json