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: Sort by abundance 

1
(HPO:0002836) Bladder exstrophy 8 / 7739
2
(HPO:0002006) Facial cleft 25 / 7739
3
(HPO:0000175) Cleft palate 349 / 7739
4
(HPO:0000625) Cleft eyelid 31 / 7739
5
(HPO:0000204) Cleft upper lip 193 / 7739
6
(HPO:0002084) Encephalocele 70 / 7739
7
(HPO:0001762) Talipes equinovarus 309 / 7739
8
(HPO:0001547) Abnormality of the rib cage 25 / 7739
9
(HPO:0001159) Syndactyly 140 / 7739
10
(HPO:0010442) Polydactyly 69 / 7739
11
(HPO:0001161) Hand polydactyly 71 / 7739
12
(HPO:0002650) Scoliosis 705 / 7739
13
(HPO:0001543) Gastroschisis 11 / 7739
14
(HPO:0001539) Omphalocele 102 / 7739
15
(HPO:0001683) Ectopia cordis 3 / 7739
16
(HPO:0002101) Abnormal lung lobation 33 / 7739
17
(OMIM) Congenital amputation 2 / 7739
18
(OMIM) Orbital clefts 2 / 7739
19
(OMIM) Abdominoschisis 2 / 7739
20
(OMIM) Ring-like finger constrictions 2 / 7739
21
(HPO:0003745) Sporadic 131 / 7739
22
(OMIM) Thoracoschisis 2 / 7739
23
(OMIM) Syndactyly, distal 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: