Monosomy 22 syndrome
Synonyms: Del(22) · Deletion 22
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monosomy 22 syndrome | Del(22) · Deletion 22 |
| fr | Syndrome de monosomie 22 | Del(22) · Délétion 22 |
| de | Monosomie 22 | = en |
| es | Síndrome de monosomía 22 | Del(22) · Deleción 22 |
| it | Sindrome monosomia 22 | Del(22) · Delezione 22 |
| nl | Monosomie 22-syndroom | Del(22) · Deletie 22 |
| pt | Monossomia 22 | |
| pl | Zespół monosomii chromosomu 22 | Del(22) · Delecja 22 |
| cs | Monozomie 22 | Del(22) · Delece 22 |
| uk | Моносомія 22 | Del(22) · Делеція 22 |
| zh | 22单体 | 22号染色体单体缺失 |
| tr | Monozomi 22 | Del (22) · Delesyon 22 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.0 | NTBT | attributed | validated |
| MONDO | 0019891 | E | validated | |
| UMLS | C0795878 | 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 (1):
- ORPHA:98141Total autosomal monosomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
40 annotations · validated 2017-04-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000606 | Abnormality of the periorbital region | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000286 | Epicanthus | |
| HP:0012368 | Flat face | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0002858 | Meningioma | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0000194 | Open mouth | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000269 | Prominent occiput | |
| HP:0000278 | Retrognathia | |
| HP:0100242 | Sarcoma | |
| HP:0100008 | Schwannoma | |
| HP:0000470 | Short neck | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000664 | Synophrys | |
| HP:0000233 | Thin vermilion border | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0005359 | Aplasia of the thymus | |
| HP:0001217 | Clubbing | |
| HP:0005781 | Contractures of the large joints | |
| HP:0010541 | Cutis gyrata of scalp | |
| HP:0006101 | Finger syndactyly | |
| HP:0010785 | Gonadal neoplasm | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001276 | Hypertonia | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0001386 | Joint swelling | |
| HP:0000252 | Microcephaly | |
| HP:0000054 | Micropenis | |
| HP:0005272 | Prominent nasolabial fold | |
| HP:0100324 | Scleroderma | |
| HP:0001051 | Seborrheic dermatitis | |
| HP:0008070 | Sparse hair | |
| HP:0001072 | Thickened skin | |
Annotation source: 27765635[PMID]_24171707[PMID]_19659869[PMID]_10432935[PMID]_9511978[PMID]_7253004[PMID]_15588863[PMID]_2770830[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96123
- This record as JSON: /data/d/96123.json