Amniotic band syndrome
Synonyms: ABS · Amniotic band sequence · Congenital constriction ring syndrome · Congenital ring constrictions · Constriction band syndrome · Streeter dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Amniotic band syndrome | ABS · Amniotic band sequence · Congenital constriction ring syndrome · Congenital ring constrictions · Constriction band syndrome · Streeter dysplasia |
| fr | Syndrome de brides amniotiques | MBA · Maladie des brides amniotiques · SBA · Syndrome d'anneaux de constriction |
| de | Schnürring-Syndrom | Amnion-Schnürfurchensyndrom · Amniotisches-Band-Syndrom · Kongenitale Schnürringe · Streeter-Dysplasie |
| es | Síndrome de anillos de constricción | Anillos de constricción congénitos · Displasia de Streeter · Secuencia de bandas amnióticas · Síndrome de bandas amnióticas · Síndrome de bandas de constricción |
| it | Sindrome da anelli di costrizione | |
| nl | Constrictieringensyndroom | Amnionstreng-sequentie · Amnionstreng-syndroom · Congenitale ringconstricties · Constrictiebandsyndroom · Dysplasie van Streeter |
| pt | Síndrome de anéis de constrição | |
| pl | Zespół pasm owodni | = en |
| cs | Syndrom amniálních pruhů | Streeterova dysplázie · Syndrom vrozených konstrikčních pruhů |
| uk | Синдром амніотичної перетинки | ABS · Послідовність амніотичної стрічки · Синдром вродженого звужувального кільця · Вроджені кільцеві звуження · Синдром стягуючого бандажа · Дисплазія Стритера |
| zh | 收缩环带综合征 | 先天性收缩环 |
| tr | Sıkışma halkaları sendromu | Streeter displazisi · Amniyotik bant dizisi · Amniyotik bant sendromu · Bant sıkışması sendromu · Doğumsal halka daralmaları |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217100 | E | validated | |
| ICD-10 | Q79.8 | NTBT | attributed | validated |
| ICD-11 | LD26.5 | E | specific | validated |
| MONDO | 0015167 | E | validated | |
| MeSH | D000652 | E | validated | |
| UMLS | C0002636 | E | validated | |
| GARD | 429 | E | validated | |
| MedDRA | 10064100 | 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 (2):
- ORPHA:68378Congenital limb malformation
rare developmental anomalies during embryogenesis - ORPHA:2416Congenital primary lymphedema without systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5.3 / 100 000 | Europe | Value and class | Validated | 36584346[PMID]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 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
28 annotations · validated 2025-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010721 | Abnormal hair whorl | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0009775 | Amniotic constriction ring | |
| HP:0010495 | Amniotic constriction rings of legs | |
| HP:0010491 | Digital constriction ring | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0011220 | Prominent forehead | |
| Occasional (29-5%) | ||
| HP:0002817 | Abnormality of the upper limb | |
| HP:0010483 | Amniotic constriction rings of arms | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0000589 | Coloboma | |
| HP:0002803 | Congenital contracture | |
| HP:5201015 | Craniofacial cleft | |
| HP:0001558 | Decreased fetal movement | |
| HP:0001683 | Ectopia cordis | |
| HP:0010742 | Edema of the upper limbs | |
| HP:0002084 | Encephalocele | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001543 | Gastroschisis | |
| HP:0001263 | Global developmental delay | |
| HP:0001539 | Omphalocele | |
| HP:0010741 | Pedal edema | |
| HP:0001622 | Premature birth | |
| HP:0002650 | Scoliosis | |
| HP:0001762 | Talipes equinovarus | |
Annotation source: 31424867[PMID]_31407870[PMID]_25531236[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/295000
- This record as JSON: /data/d/295000.json