ORPHA:261323
21q22.11q22.12 microdeletion syndrome
Synonyms: Del(21)(q22.11q22.12) · Monosomy 21q22.11q22.12
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 21q22.11q22.12 microdeletion syndrome | Del(21)(q22.11q22.12) · Monosomy 21q22.11q22.12 |
| fr | Syndrome de microdélétion 21q22.11q22.12 | Del(21)(q22.11q22.12) · Monosomie 21q22.11q22.12 |
| de | Mikrodeletionssyndrom 21q22.11q22.12 | Del(21)(q22.11q22.12) · Monosomie 21q22.11q22.12 |
| es | Síndrome de microdeleción 21q22.11q22.12 | Del(21)(q22.11q22.12) · Monosomía 21q22.11q22.12 |
| it | Sindrome da microdelezione 21q22.11q22.12 | Del(21)(q22.11q22.12) · Monosomia 21q22.11-q22.12 · Monosomia 21q22.11q22.12 · Sindrome da microdelezione 21q22.11-q22.12 |
| nl | 21q22.11q22.12-microdeletiesyndroom | Del(21)(q22.11q22.12) · Monosomie 21q22.11q22.12 |
| pt | Síndrome de microdeleção 21q22 | |
| pl | Zespół mikrodelecji 21q22.11q22.12 | Del(21)(q22.11q22.12) · Monosomia 21q22.11q22.12 · Monosomia 21q22.11-q22.12 · Zespół mikrodelecji 21q22.11-q22.12 |
| cs | Syndrom mikrodelece 21q22.11q22.12 | Del(21)(q22.11q22.12) · Monozomie 21q22.11-q22.12 · Monozomie 21q22.11q22.12 · 21q22.11-q22.12 mikrodeleční syndrom |
| uk | Синдром мікроделеції 21q22.11q22.12 | Del(21)(q22.11q22.12) · Моносомія 21q22.11q22.12 |
| zh | 21q22.11q22.12微缺失综合征 | 21q22.11q22.12单体 |
| tr | 21q22.11q22.12 mikrodelesyon sendromu | Del (21) (q22.11q22.12) · Monozomi 21q22.11q22.12 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619980 | BTNT | validated | |
| OMIM | 619981 | BTNT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.M | NTBT | index | validated |
| MONDO | 0016845 | E | validated | |
| UMLS | C5192593 | 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 (5):
- 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:262173Partial deletion of the long arm of chromosome 21 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:138047Pierre Robin syndrome associated with a chromosomal anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3323Braddock-Carey syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF15 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17273 | ENSG00000163808 | 617569 | 3p21.31 | kinesin family member 15 | 28150392[PMID]_27549381[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 20578134[PMID]_7515754[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20578134[PMID]_7515754[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.
6
HPO phenotypes
59 annotations · validated 2019-10-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001344 | Absent speech | |
| HP:0000708 | Atypical behavior | |
| HP:0001156 | Brachydactyly | |
| HP:0000414 | Bulbous nose | |
| HP:0012385 | Camptodactyly | |
| HP:0030084 | Clinodactyly | |
| HP:0000280 | Coarse facial features | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0006979 | Sleep-wake cycle disturbance | |
| HP:0001792 | Small nail | |
| Occasional (29-5%) | ||
| HP:0003086 | Acromesomelia | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0001903 | Anemia | |
| HP:0000463 | Anteverted nares | |
| HP:0001631 | Atrial septal defect | |
| HP:0003763 | Bruxism | |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000678 | Dental crowding | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002307 | Drooling | |
| HP:0000958 | Dry skin | |
| HP:0008947 | Floppy infant | |
| HP:0000752 | Hyperactivity | |
| HP:0000316 | Hypertelorism | |
| HP:0002557 | Hypoplastic nipples | |
| HP:0030215 | Inappropriate crying | |
| HP:0000369 | Low-set ears | |
| HP:0008551 | Microtia | |
| HP:0011800 | Midface retrusion | |
| HP:0008404 | Nail dystrophy | |
| HP:0001106 | Periorbital hyperpigmentation | |
| HP:0002465 | Poor speech | |
| HP:0000403 | Recurrent otitis media | |
| HP:0000311 | Round face | |
| HP:0000960 | Sacral dimple | |
| HP:0030799 | Scaphocephaly | |
| HP:0100716 | Self-injurious behavior | |
| HP:0012745 | Short palpebral fissure | |
| HP:0009597 | Short proximal phalanx of the 2nd finger | |
| HP:0009226 | Short proximal phalanx of the 5th finger | |
| HP:0000319 | Smooth philtrum | |
| HP:0012172 | Stereotypical body rocking | |
| HP:0000486 | Strabismus | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0012471 | Thick vermilion border | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0100703 | Tongue thrusting | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20578134[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261323
- This record as JSON: /data/d/261323.json