Xp22.3 microdeletion syndrome
Synonyms: Del(X)(p23)
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xp22.3 microdeletion syndrome | Del(X)(p23) |
| fr | Syndrome de microdéletion Xp22.3 | = en |
| de | Mikrodeletionssyndrom Xp22.3 | = en |
| es | Síndrome de microdeleción Xp22.3 | = en |
| it | Sindrome da microdelezione Xp22.3 | = en |
| nl | Xp22.3-microdeletiesyndroom | = en |
| pt | Síndrome de microdeleção Xp22.3 | Deleção Xp22 pter · Monossomia Xp22 pter |
| pl | Zespół mikrodelecji Xp22.3 | = en |
| cs | Syndrom Xp22.3 mikrodelece | = en |
| uk | Синдром мікроделеції Xp22.3 | = en |
| zh | Xp22.3微缺失综合征 | Xp23缺失 |
| tr | Xp22.3 mikrodelesyon sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| MONDO | 0015606 | E | validated | |
| UMLS | C4512072 | 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:263731Partial deletion of the short arm of the chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:431Ichthyosis-male hypogonadism 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 | 6 cases | Worldwide | Case(s) | Validated | 12657015[PMID]_32670353[PMID]_1519653[PMID]_17591464[PMID]_18925676[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 12657015[PMID]_32670353[PMID]_1519653[PMID]_17591464[PMID]_18925676[PMID]_ORPHANET |
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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000144 | Decreased fertility | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000545 | Myopia | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0000147 | Polycystic ovaries | |
| Occasional (29-5%) | ||
| HP:0004397 | Ectopic anus | |
| HP:0000960 | Sacral dimple | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1643
- This record as JSON: /data/d/1643.json