Distal 17p13.1 microdeletion syndrome
Synonyms: Distal del(17)(p13.1)
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal 17p13.1 microdeletion syndrome | Distal del(17)(p13.1) |
| fr | Syndrome de microdélétion 17p13.1 distale | Del(17)(p13.1) distale |
| de | Mikrodeletionssyndrom 17p13.1, distal | Del(17)(p13.1), distal |
| es | Síndrome de microdeleción terminal 17p13.1 | Del(17)(p13.1) terminal |
| it | Sindrome da microdelezione 17p13.1 distale | Del(17)(p13.1) distale |
| nl | Distale 17p13.1-microdeletiesyndroom | Distale del(17)(p13.1) |
| pt | Síndrome de microdeleção distal 17p13.1 | |
| pl | Zespół mikrodelecji dystalnej 17p13.1 | Dystalna del(17)(p13.1) |
| cs | Distální 17p13.1 mikrodeleční syndrom | Distální del(17)(p13.1) |
| uk | Синдром дистальної мікроделеції 17p13.1 | Дистальна del(17)(p13.1) |
| zh | 17p13.1远端微缺失综合征 | 17p13.1远端缺失 |
| tr | Distal 17p13.1 mikrodelesyon sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0017867 | E | validated | |
| UMLS | C4749349 | E | validated | |
| GARD | 10996 | 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:261965Partial deletion of the short arm of chromosome 17 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 | 16 cases | Worldwide | Case(s) | Validated | 24501763[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24501763[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
23 annotations · validated 2019-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0008947 | Floppy infant | |
| HP:0000252 | Microcephaly | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0001270 | Motor delay | |
| HP:0011094 | Overbite | |
| HP:0002172 | Postural instability | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000278 | Retrognathia | |
| HP:0000325 | Triangular face | |
| Occasional (29-5%) | ||
| HP:0005922 | Abnormal hand morphology | |
| HP:0001166 | Arachnodactyly | |
| HP:0000490 | Deeply set eye | |
| HP:0010850 | EEG with spike-wave complexes | |
| HP:0005469 | Flat occiput | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0000218 | High palate | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0010501 | Limitation of knee mobility | |
| HP:0002996 | Limited elbow movement | |
| HP:0000341 | Narrow forehead | |
| HP:0000411 | Protruding ear | |
| HP:0006927 | Unilateral polymicrogyria | |
Annotation source: 22753084[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319171
- This record as JSON: /data/d/319171.json