14q22q23 microdeletion syndrome
Synonyms: 14q22-q23 microdeletion syndrome · Del(14)(q22q23) · Monosomy 14q22-q23 · Monosomy 14q22q23
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 14q22q23 microdeletion syndrome | 14q22-q23 microdeletion syndrome · Del(14)(q22q23) · Monosomy 14q22-q23 · Monosomy 14q22q23 |
| fr | Syndrome de microdélétion 14q22q23 | Monosomie 14q22q23 · Syndrome de microdélétion 14q22-q23 · Del(14)(q22q23) · Monosomie 14q22-q23 |
| de | Mikrodeletionsyndrom 14q22q23 | Del(14)(q22q23) · Mikrodeletionsyndrom 14q22-q23 · Monosomie 14q22-q23 · Monosomie 14q22q23 |
| es | Síndrome de microdeleción 14q22q23 | Del(14)(q22q23) · Monosomía 14q22-q23 · Monosomía 14q22q23 · Síndrome de microdeleción 14q22-q23 |
| it | Sindrome da microdelezione 14q22q23 | Del(14)(q22q23) · Monosomia 14q22-q23 · Monosomia 14q22q23 · Sindrome da microdelezione 14q22-q23 |
| nl | 14q22q23-microdeletiesyndroom | 14q22-q23-microdeletiesyndroom · Del(14)(q22q23) · Monosomie 14q22-q23 · Monosomie 14q22q23 |
| pt | Síndrome de microdeleção 14q22q23 | |
| pl | Zespół mikrodelecji 14q22q23 | Del(14)(q22q23) · Monosomia 14q22q23 · Monosomia 14q22-q23 · Zespół mikrodelecji 14q22-q23 |
| cs | Syndrom mikrodelece 14q22q23 | Del(14)(q22q23) · Monozomie 14q22-q23 · Monozomie 14q22q23 · 14q22-q23 mikrodeleční syndrom |
| uk | Синдром мікроделеції 14q22q23 | Синдром мікроделеції 14q22-q23 · Del(14)(q22q23) · Моносомія 14q22q23 · Моносомія 14q22-q23 |
| zh | 14q22q23微缺失综合征 | 14q22-q23微缺失综合征 |
| tr | 14q22q23 mikrodelesyon sendromu | Del(14)(q22q23) · Monozomi 14q22q23 · Monozomi 14q22-q23 · 14q22-q23 mikrodelesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609640 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.E | NTBT | index | validated |
| MONDO | 0012324 | E | validated | |
| UMLS | C1864825 | E | validated | |
| GARD | 2384 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:262110Partial deletion of the long arm of chromosome 14 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2055Growth deficiency-brachydactyly-dysmorphism syndrome moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 24311462[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24311462[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
40 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0000528 | Anophthalmia | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000028 | Cryptorchidism | |
| HP:0000378 | Cupped ear | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0012521 | Optic nerve aplasia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0004322 | Short stature | |
| HP:0000046 | Small scrotum | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0000248 | Brachycephaly | |
| HP:0000873 | Diabetes insipidus | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000835 | Adrenal hypoplasia | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001558 | Decreased fetal movement | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0006101 | Finger syndactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0000089 | Renal hypoplasia | |
| HP:0010044 | Short 4th metacarpal | |
| HP:0010047 | Short 5th metacarpal | |
| HP:0001773 | Short foot | |
| HP:0004279 | Short palm | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16088912[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/264200
- This record as JSON: /data/d/264200.json