1q41q42 microdeletion syndrome
Synonyms: Del(1)(q41q42) · Monosomy 1q41q42
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 1q41q42 microdeletion syndrome | Del(1)(q41q42) · Monosomy 1q41q42 |
| fr | Syndrome de microdélétion 1q41q42 | Del(1)(q41q42) · Monosomie 1q41q42 |
| de | Mikrodeletionssyndrom 1q41q42 | Del(1)(q41q42) · Monosomie 1q41-q42 |
| es | Síndrome de microdeleción 1q41q42 | Del(1)(q41q42) · Monosomía 1q41q42 |
| it | Sindrome da microdelezione 1q41q42 | Del(1)(q41q42) · Monosomia 1q41-q42 · Monosomia 1q41q42 · Sindrome da microdelezione 1q41-q42 |
| nl | 1q41q42-microdeletiesyndroom | Del(1)(q41q42) · Monosomie 1q41q42 |
| pt | Síndrome de microdeleção 1q41-q42 | Monossomia 1q41-q42 |
| pl | Zespół mikrodelecji 1q41q42 | Del(1)(q41q42) · Monosomia 1q41q42 · Monosomia 1q41-q42 · Zespół mikrodelecji 1q41-q42 |
| cs | Mikrodeleční syndrom 1q41q42 | Del(1)(q41q42 · Monozomie 1q41-q42 · Monozomie 1q41q42 · Mikrodeleční syndrom 1q41-q42 |
| uk | Синдром мікроделеції 1q41q42 | Del(1)(q41q42) · Моносомія 1q41q42 |
| zh | 染色体1q41q42微缺失综合征 | 1q41q42单体 |
| tr | 1q41q42 mikrodelesyon sendromu | Del (1) (q41q42) · Monozomi 1q41q42 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612530 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.10 | NTBT | index | validated |
| MONDO | 0012927 | E | validated | |
| UMLS | C4274528 | E | validated | |
| GARD | 3738 | 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 (1):
- ORPHA:262001Partial deletion of the long arm of chromosome 1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
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.
HPO phenotypes
32 annotations · validated 2016-03-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0000455 | Broad nasal tip | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0001792 | Small nail | |
| HP:0001762 | Talipes equinovarus | |
| HP:0012471 | Thick vermilion border | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0000525 | Abnormality iris morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0000175 | Cleft palate | |
| HP:0000280 | Coarse facial features | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000028 | Cryptorchidism | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0011447 | Hyposegmentation of neutrophil nuclei | |
| HP:0000601 | Hypotelorism | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000486 | Strabismus | |
| HP:0000176 | Submucous cleft hard palate | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 25900767[PMID]_7894732[PMID]_9728329[PMID]_19184110[PMID]_20799323[PMID]_20358614[PMID]_17873649[PMID]_23542665[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/250999
- This record as JSON: /data/d/250999.json