Distal deletion 13q syndrome
Synonyms: 13q32 deletion · Deletion 13q32 · Distal monosomy 13q · Monosomy 13q32 · Telomeric deletion 13q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 13q syndrome | 13q32 deletion · Deletion 13q32 · Distal monosomy 13q · Monosomy 13q32 · Telomeric deletion 13q |
| fr | Syndrome de délétion distale 13q | Délétion 13q32 · Délétion télomérique 13q · Monosomie 13q32 · Monosomie distale 13q |
| de | Distale Deletion 13q | Distale Monosomie 13q · Monosomie 13q32 · Telomere Deletion 13q |
| es | Síndrome de deleción terminal 13q | Deleción 13q32 · Monosomía 13q32 · Monosomía terminal 13q |
| it | Sindrome delezione 13q distale | Delezione 13q telomerica · Delezione 13q32 · Monosomia 13q distale · Monosomia 13q32 |
| nl | Distale deletie 13q-syndroom | 13q32-deletie · Deletie 13q32 · Distale monosomie 13q · Monosomie 13q32 · Telomerische deletie 13q |
| pt | Deleção distal 13q | Deleção 13q32 · Deleção telomérica 13q · Monossomia 13q32 · Monossomia distal 13q |
| pl | Zespół delecji dystalnej 13q | Delecja 13q32 · Delecja 13q32 · Dystalna delecja 13q · Monosomia 13q32 · Telomerowa delecja 13q |
| cs | Distální monozomie 13q | 13q32 delece · Delece 13q32 · Distální 13q delece · Monozomie 13q32 · Telomerická delece 13q |
| uk | Дистальна делеція 13q | Делеція 13q32 · Делеція 13q32 · Дистальна моносомія 13q · Моносомія 13q32 · Делеція теломерної ділянки 13q |
| zh | 13号染色体长臂远端单体 | 13号染色体长臂末端着丝粒缺失 |
| tr | Distal monozomi 13q | 13q32 delesyon · Delesyon 13q32 · Monozomi 13q32 · Distal 13q delesyonu · Telomerik delesyon 13q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602553 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.D | NTBT | index | validated |
| MONDO | 0011248 | E | validated | |
| UMLS | C4706502 | 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 (3):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:262101Partial deletion of the long arm of chromosome 13 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
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 | 150 cases | Worldwide | Case(s) | Validated | 24433316[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_24433316[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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0002023 | Anal atresia | |
| HP:0002323 | Anencephaly | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0100543 | Cognitive impairment | |
| HP:0002084 | Encephalocele | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000316 | Hypertelorism | |
| HP:0001276 | Hypertonia | |
| HP:0000612 | Iris coloboma | |
| HP:0000252 | Microcephaly | |
| HP:0000648 | Optic atrophy | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0004322 | Short stature | |
| HP:0100589 | Urogenital fistula | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1590
- This record as JSON: /data/d/1590.json