ORPHA:228384
5q14.3 microdeletion syndrome
Synonyms: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion · Del(5)(q14.3) · Monosomy 5q14.3
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 5q14.3 microdeletion syndrome | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion · Del(5)(q14.3) · Monosomy 5q14.3 |
| fr | Syndrome de microdélétion 5q14.3 | Del(5)(q14.3) · Monosomie 5q14.3 · Syndrome d'anomalies cérébrales-retard sévère du développement-dysmorphie faciale-déficience intellectuelle due à une microdélétion 5p14.3 |
| de | Mikrodeletionssyndrom 5q14.3 | Hirnanomalien-schwere Entwicklungsverzögerung-Gesichtsdysmorphie-Intelligenzminderung-Syndrom durch Mikrodeletion 5q14.3 · Del(5)(q14.3) · Monosomie 5q14.3 |
| es | Síndrome de microdeleción 5q14.3 | Del(5)(q14.3) · Monosomía 5q14.3 · Síndrome de anomalías cerebrales-retraso grave del desarrollo-dismorfia facial-discapacidad intelectual por microdeleción 5q14.3 |
| it | Sindrome da microdelezione 5q14.3 | Del(5)(q14.3) · Monosomia 5q14.3 · Sindrome anomalie cerebrali-grave ritardo dello sviluppo-dismorfismo facciale-disabilità intellettiva da microdelezione 5q14.3 |
| nl | 5q14.3-microdeletiesyndroom | Del(5)(q14.3) · Monosomie 5q14.3 · Hersenafwijkingen - ernstige ontwikkelingsachterstand - faciale dysmorfie - intellectuele achterstand-syndroom door 5q14.3-microdeletie |
| pt | Síndrome de microdeleção 5q14.3 | |
| pl | Zespół mikrodelecji 5q14.3 | Del(5)(q14.3) · Monosomia 5q14.3 |
| cs | Mikrodeleční syndrom 5q14.3 | Del(5)(q14.3) · Monozomie 5q14.3 |
| uk | Синдром мікроделеції 5q14.3 | Del(5)(q14.3) · Моносомія 5q14.3 |
| zh | 5q14.3微缺失综合征 | 5q14.3单体 |
| tr | 5q14.3 mikrodelesyon sendromu | Del (5) (q14.3) · MonoZomİ 5q14.3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613443 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.50 | NTBT | index | validated |
| MONDO | 0016456 | E | validated | |
| UMLS | C4304529 | E | validated | |
| GARD | 12166 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:664410Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:262038Partial deletion of the long arm of chromosome 5 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MEF2C | Role in the phenotype of | Assessed | HGNC:6996 | ENSG00000081189 | 600662 | 5q14.3 | myocyte enhancer factor 2C | 20513142[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 23824879[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23824879[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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0000337 | Broad forehead | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000348 | High forehead | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0012639 | Abnormal nervous system morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0003196 | Short nose | |
| HP:0000322 | Short philtrum | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002335 | Agenesis of cerebellar vermis | |
| HP:0000463 | Anteverted nares | |
| HP:0000490 | Deeply set eye | |
| HP:0011968 | Feeding difficulties | |
| HP:0006913 | Frontal cortical atrophy | |
| HP:0000194 | Open mouth | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000486 | Strabismus | |
| HP:0000574 | Thick eyebrow | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228384
- This record as JSON: /data/d/228384.json