19p13.13 microdeletion syndrome
Synonyms: Del(19)(p13.13) · Monosomy 19p13.13
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 19p13.13 microdeletion syndrome | Del(19)(p13.13) · Monosomy 19p13.13 |
| fr | Syndrome de microdélétion 19p13.13 | Del(19)(p13.13) · Monosomie 19p13.13 |
| de | Mikrodeletionssyndrom 19p13.13 | Del(19)(p13.13) · Monosomie 19p13.13 |
| es | Síndrome de microdeleción 19p13.13 | Del(19)(p13.13) · Monosomía 19p13.13 |
| it | Sindrome da microdelezione 19p13.13 | Del(19)(p13.13) · Monosomia 19p13.13 |
| nl | 19p13.13-microdeletiesyndroom | Del(19)(p13.13) · Monosomie 19p13.13 |
| pt | Síndrome de microdeleção 19p13.13 | |
| pl | Zespół mikrodelecji 19p13.13 | Del(19)(p13.13) · Monosomia 19p13.13 |
| cs | Mikrodeleční syndrom 19p13.13 | Del(19)(p13.13) · Monozomie 19p13.13 |
| uk | Синдром мікроделеції 19p13.13 | Del(19)(p13.13) · Моносомія 19p13.13 |
| zh | 19p13.13微缺失综合征 | 19p13.13单体 |
| tr | 19p13.13 mikrodelesyon sendromu | Del(19)(p13.13) · Monozomi 19p13.13 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613638 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0013336 | E | validated | |
| UMLS | C3150894 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:261983Partial deletion of the short arm of chromosome 19 syndrome
rare developmental anomalies during embryogenesis; rare genetic 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 | 7 cases | Worldwide | Case(s) | Validated | 23495138[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
47 annotations · validated 2019-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000256 | Macrocephaly | |
| HP:0011220 | Prominent forehead | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0012719 | Functional abnormality of the gastrointestinal tract | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000276 | Long face | |
| HP:0000767 | Pectus excavatum | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000248 | Brachycephaly | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0007099 | Chiari type I malformation | |
| HP:0030084 | Clinodactyly | |
| HP:0007371 | Corpus callosum atrophy | |
| HP:0001869 | Deep plantar creases | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002014 | Diarrhea | |
| HP:0000268 | Dolichocephaly | |
| HP:0000286 | Epicanthus | |
| HP:0011968 | Feeding difficulties | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0007333 | Hypoplasia of the frontal lobes | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0000527 | Long eyelashes | |
| HP:0100807 | Long fingers | |
| HP:0000369 | Low-set ears | |
| HP:0000158 | Macroglossia | |
| HP:0000400 | Macrotia | |
| HP:0000272 | Malar flattening | |
| HP:0000160 | Narrow mouth | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0001763 | Pes planus | |
| HP:0001852 | Sandal gap | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0000319 | Smooth philtrum | |
| HP:0003396 | Syringomyelia | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002013 | Vomiting | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26338046[PMID]_20613546[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/357001
- This record as JSON: /data/d/357001.json