ORPHA:238750
4q21 microdeletion syndrome
Synonyms: Del(4)(q21) · Monosomy 4q21
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 4q21 microdeletion syndrome | Del(4)(q21) · Monosomy 4q21 |
| fr | Syndrome de microdélétion 4q21 | Del(4)(q21) · Monosomie 4q21 |
| de | Mikrodeletionssyndrom 4q21 | Del(4)(q21) · Monosomie 4q21 |
| es | Síndrome de microdeleción 4q21 | Del(4)(q21) · Monosomía 4q21 |
| it | Sindrome da microdelezione 4q21 | Del(4)(q21) · Monosomia 4q21 |
| nl | 4q21-microdeletiesyndroom | Del(4)(q21) · Monosomie 4q21 |
| pt | Síndrome de microdeleção 4q21 | |
| pl | Zespół mikrodelecji 4q21 | Del(4)(q21) · Monosomia 4q21 |
| cs | Mikrodeleční syndrom 4q21 | Del(4)(q21) · Monozomie 4q21 |
| uk | Синдром мікроделеції 4q21 | Del(4)(q21) · Моносомія 4q21 |
| zh | 染色体4q21微缺失综合征 | 4q21单体 |
| tr | 4q21 mikrodelesyon sendromu | Del (4) (q21) · Monozomi 4q21 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613509 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.40 | NTBT | index | validated |
| MONDO | 0013292 | E | validated | |
| UMLS | C4304530 | 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:262029Partial deletion of the long arm of chromosome 4 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 20522426[PMID]_22903878[PMID]_21834054[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
42 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:0001510 | Growth delay | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000337 | Broad forehead | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000293 | Full cheeks | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0002983 | Micromelia | |
| HP:0001773 | Short foot | |
| HP:0000470 | Short neck | |
| HP:0004279 | Short palm | |
| HP:0000322 | Short philtrum | |
| HP:0200055 | Small hand | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000717 | Autism | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000365 | Hearing impairment | |
| HP:0000348 | High forehead | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002808 | Kyphosis | |
| HP:0000239 | Large fontanelles | |
| HP:0000527 | Long eyelashes | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| HP:0000233 | Thin vermilion border | |
| HP:0001770 | Toe syndactyly | |
| HP:0001337 | Tremor | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238750
- This record as JSON: /data/d/238750.json