1p35.2 microdeletion syndrome
Synonyms: Del(1)(p35.2) · Deletion 1p35.2 · Monosomy 1p35.2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare chromosomal anomaly characterized by an intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia, and a recognisable facial dysmorphism including prominent forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 1p35.2 microdeletion syndrome | Del(1)(p35.2) · Deletion 1p35.2 · Monosomy 1p35.2 |
| fr | Syndrome de microdélétion 1p35.2 | Del(1)(p35.2) · Délétion 1p35.2 · Monosomie 1p35.2 |
| de | Mikrodeletionssyndrom 1p35.2 | Del(1)(p35.2) · Deletion 1p35.2 · Monosomie 1p35.2 |
| es | Síndrome de microdeleción 1p35.2 | Del(1)(p35.2) · Deleción 1p35.2 · Monosomía 1p35.2 |
| it | Sindrome da microdelezione 1p35.2 | Del(1)(p35.2) · Delezione 1p35.2 · Monosomia 1p35.2 |
| nl | 1p35.2-microdeletiesyndroom | Del(1)(p35.2) · Deletie 1p35.2 · Monosomie 1p35.2 |
| pt | Síndrome de microdeleção 1p35.2 | |
| pl | Zespół mikrodelecji 1p35.2 | Del(1)(p35.2) · Delecja 1p35.2 · Monosomia 1p35.2 |
| cs | Mikrodeleční syndrom 1p35.2 | Del(1)(p35.2) · Delece 1p35.2 · Monozomie 1p35.2 |
| uk | Синдром мікроделеції 1p35.2 | Del(1)(p35.2) · Делеція 1p35.2 · Моносомія 1p35.2 |
| zh | 1p35.2微缺失综合征 | 1p35.2单体 |
| tr | 1p35.2 mikrodelesyon sendromu | Del(1)(p35.2) · Delesyon 1p35.2 · Monozomi1p35.2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617930 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0018697 | E | validated | |
| UMLS | C5679992 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:261857Partial deletion of the short arm of chromosome 1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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 | 2 cases | Worldwide | Case(s) | Validated | 25900906[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25900906[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/456298
- This record as JSON: /data/d/456298.json