ORPHA:261279
17q23.1q23.2 microdeletion syndrome
Synonyms: Del(17)(q23.1q23.2) · Monosomy 17q23.1q23.2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 17q23.1q23.2 microdeletion syndrome | Del(17)(q23.1q23.2) · Monosomy 17q23.1q23.2 |
| fr | Syndrome de microdélétion 17q23.1q23.2 | Del(17)(q23.1q23.2) · Monosomie 17q23.1q23.2 |
| de | Mikrodeletionssyndrom 17q23.1q23.2 | Del(17)(q23.1q23.2) · Monosomie 17q23.1q23.2 |
| es | Síndrome de microdeleción 17q23.1q23.2 | Del(17)(q23.1q23.2) · Monosomía 17q23.1q23.2 |
| it | Sindrome da microdelezione 17q23.1q23.2 | Del(17)(q23.1q23.2) · Monosomia 17q23.1-q23.2 · Monosomia 17q23.1q23.2 · Sindrome da microdelezione 17q23.1-q23.2 |
| nl | 17q23.1q23.2-microdeletiesyndroom | Del(17)(q23.1q23.2) · Monosomie 17q23.1q23.2 |
| pt | Síndrome de microdeleção 17q23.1q23.2 | |
| pl | Zespół mikrodelecji 17q23.1q23.2 | Del(17)(q23.1q23.2) · Monosomia 17q23.1q23.2 · Monosomia 17q23.1-q23.2 · Zespół mikrodelecji 17q23.1-q23.2 |
| cs | Syndrom mikrodelece 17q23.1q23.2 | Del(17)(q23.1q23.2) · Monozomie 17q23.1-q23.2 · Monozomie 17q23.1q23.2 · 17q23.1-q23.2 mikrodeleční syndrom |
| uk | Синдром мікроделеції 17q23.1q23.2 | Del(17)(q23.1q23.2) · Моносомія 17q23.1q23.2 |
| zh | 17q23.1q23.2微缺失综合征 | 17q23.1q23.2单体 |
| tr | 17q23.1q23.2 mikrodelesyon sendromu | Del (17) (q23.1q23.2) · Monozomi 17q23.1q23.2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613355 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.H0 | NTBT | index | validated |
| MONDO | 0013238 | E | validated | |
| UMLS | C4304591 | E | validated | |
| GARD | 10936 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262137Partial deletion of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX4 | Role in the phenotype of | Assessed | HGNC:11603 | ENSG00000121075 | 601719 | 17q23.2 | T-box transcription factor 4 | 21271665[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 20206336[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20206336[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.
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HPO phenotypes
46 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0100807 | Long fingers | |
| HP:0010511 | Long toe | |
| HP:0011342 | Mild global developmental delay | |
| HP:0011343 | Moderate global developmental delay | |
| Frequent (79-30%) | ||
| HP:0002007 | Frontal bossing | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0000708 | Atypical behavior | |
| HP:0011803 | Bifid nose | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000498 | Blepharitis | |
| HP:0000414 | Bulbous nose | |
| HP:0000389 | Chronic otitis media | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002803 | Congenital contracture | |
| HP:0003279 | Coxa magna | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002094 | Dyspnea | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000365 | Hearing impairment | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000527 | Long eyelashes | |
| HP:0000272 | Malar flattening | |
| HP:0000160 | Narrow mouth | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0001763 | Pes planus | |
| HP:0000411 | Protruding ear | |
| HP:0000960 | Sacral dimple | |
| HP:0001852 | Sandal gap | |
| HP:0002650 | Scoliosis | |
| HP:0003182 | Shallow acetabular fossae | |
| HP:0000049 | Shawl scrotum | |
| HP:0000486 | Strabismus | |
| HP:0000687 | Widely spaced teeth | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261279
- This record as JSON: /data/d/261279.json