X small rings syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X small rings syndrome | |
| fr | Syndrome des petits anneaux du x | |
| de | Chromosom X, kleine Ringe | |
| es | Síndrome de pequeño cromosoma X en anillo | |
| it | Sindrome cromosoma X a piccoli anelli | |
| nl | Syndroom van kleine X-ringchromosomen | |
| pt | Cromossoma X em anel, pequeno | |
| pl | Zespół małych pierścieniowych chromosomów X | |
| cs | Malé ring chromozomy X | Malé kruhové chromozomy X |
| uk | Маленька кільцева хромосома X | |
| zh | 小环形X染色体 | |
| tr | Küçük halka X Kromozomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD51 | NTBT | index | validated |
| MONDO | 0019926 | E | validated | |
| UMLS | C4707824 | 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 (5):
- ORPHA:98159Chromosome X structural anomaly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:399853Rare female infertility due to an anomaly of ovarian function
rare infertility disorders - ORPHA:400022Rare female infertility due to an anomaly of ovarian function of genetic origin
rare genetic diseases - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric 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 2015-11-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000463 | Anteverted nares | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0000280 | Coarse facial features | |
| HP:0007642 | Congenital stationary night blindness | |
| HP:0012725 | Cutaneous syndactyly | |
| HP:0000286 | Epicanthus | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000343 | Long philtrum | |
| HP:0002162 | Low posterior hairline | |
| HP:0001718 | Mitral stenosis | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000939 | Osteoporosis | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0000786 | Primary amenorrhea | |
| HP:0000411 | Protruding ear | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0000470 | Short neck | |
| HP:0000486 | Strabismus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001770 | Toe syndactyly | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0009816 | Lower limb undergrowth | |
| HP:0001182 | Tapered finger | |
| HP:0009824 | Upper limb undergrowth | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0010945 | Fetal pyelectasis | |
| HP:0001382 | Joint hypermobility | |
| HP:0001562 | Oligohydramnios | |
| HP:0001250 | Seizure | |
| HP:0400000 | Tall chin | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 1415351[PMID]_10982188[PMID]_7665167[PMID]_8326492[PMID]_8079992[PMID]_8265665[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96201
- This record as JSON: /data/d/96201.json