Monosomy 13q14 syndrome
Synonyms: Del(13)(q14) · Deletion 13q14
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monosomy 13q14 syndrome | Del(13)(q14) · Deletion 13q14 |
| fr | Syndrome de monosomie 13q14 | Del(13)(q14) · Syndrome de déletion 13q14 |
| de | Monosomie 13q14 | DEL13Q14 · Del(13)(q14) · Deletion 13q14-Syndrom |
| es | Síndrome de monosomía 13q14 | Del(13)(q14) · Deleción 13q14 |
| it | Sindrome monosomia 13q14 | Del(13)(q14) · Delezione 13q14 |
| nl | Monosomie 13q14-syndroom | Del(13)(q14) · Deletie 13q14-syndroom |
| pt | Monossomia 13q14 | Deleção 13q · Monossomia 13q |
| pl | Zespół monosomii 13q14 | Del(13)(q14) · Zespół delecji 13q14 |
| cs | Monozomie 13q14 | Del(13)(q14) · Delece 13q14 |
| uk | Моносомія 13q14 | Del(13)(q14) · Делеція 13q14 |
| zh | 单体13q14 | 13q14缺失 |
| tr | Monozomi 13q14 | Del(13)(q14) · Delesyon 13q14 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613884 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.D | NTBT | index | validated |
| MONDO | 0013481 | E | validated | |
| UMLS | C4749304 | 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:98574Syndromic epicanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RB1 | Role in the phenotype of | Assessed | HGNC:9884 | ENSG00000139687 | 614041 | 13q14.2 | RB transcriptional corepressor 1 | 21505449[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0004322 | Short stature | |
| HP:0000391 | Thickened helices | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0001156 | Brachydactyly | |
| HP:0000518 | Cataract | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000286 | Epicanthus | |
| HP:0006101 | Finger syndactyly | |
| HP:0001252 | Hypotonia | |
| HP:0000612 | Iris coloboma | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0000411 | Protruding ear | |
| HP:0000508 | Ptosis | |
| HP:0009919 | Retinoblastoma | |
| HP:0000470 | Short neck | |
| HP:0000243 | Trigonocephaly | |
| Occasional (29-5%) | ||
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0001360 | Holoprosencephaly | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000465 | Webbed neck | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1587
- This record as JSON: /data/d/1587.json