Constriction rings syndrome
General Information (adopted from Orphanet):
Synonyms, Signs: |
STREETER ANOMALY ADAM COMPLEX, INCLUDED AMNIOTIC BAND SEQUENCE TERMINAL TRANSVERSE DEFECTS OF ARM, INCLUDED AMPUTATION, CONGENITAL, INCLUDED ABS |
Number of Symptoms | 23 |
OrphanetNr: | 295000 |
OMIM Id: |
217100
|
ICD-10: |
Q79.8 |
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Sporadic [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: |
Amniotic bands
-Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
(HPO:0002836) | Bladder exstrophy | 8 / 7739 | ||||
|
(HPO:0002006) | Facial cleft | 25 / 7739 | ||||
|
(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
|
(HPO:0000625) | Cleft eyelid | 31 / 7739 | ||||
|
(HPO:0000204) | Cleft upper lip | 193 / 7739 | ||||
|
(HPO:0002084) | Encephalocele | 70 / 7739 | ||||
|
(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
|
(HPO:0001547) | Abnormality of the rib cage | 25 / 7739 | ||||
|
(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
|
(HPO:0010442) | Polydactyly | 69 / 7739 | ||||
|
(HPO:0001161) | Hand polydactyly | 71 / 7739 | ||||
|
(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
|
(HPO:0001543) | Gastroschisis | 11 / 7739 | ||||
|
(HPO:0001539) | Omphalocele | 102 / 7739 | ||||
|
(HPO:0001683) | Ectopia cordis | 3 / 7739 | ||||
|
(HPO:0002101) | Abnormal lung lobation | 33 / 7739 | ||||
|
(OMIM) | Congenital amputation | 2 / 7739 | ||||
|
(OMIM) | Orbital clefts | 2 / 7739 | ||||
|
(OMIM) | Abdominoschisis | 2 / 7739 | ||||
|
(OMIM) | Ring-like finger constrictions | 2 / 7739 | ||||
|
(HPO:0003745) | Sporadic | 131 / 7739 | ||||
|
(OMIM) | Thoracoschisis | 2 / 7739 | ||||
|
(OMIM) | Syndactyly, distal | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|